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New York State Congenital Malformation Registry 1 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______189.0 Y Y Wilm's tumor (nephroblastoma) only is reportable 190.5 N Y Retinoblastoma

191.0 N Y Central , cerebrum

191.1 N Y Central nervous system neoplasm, frontal lobe 191.2 N Y Central nervous system neoplasm, temporal lobe

191.3 N Y Central nervous system neoplasm, parietal lobe

191.4 N Y Central nervous system neoplasm, occipital lobe 191.5 N Y Central nervous system neoplasm, ventricles

191.6 N Y Central nervous system neoplasm, cerebellum nos

191.7 N Y Central nervous system neoplasm, brain stem 191.8 Y Y Central nervous system neoplasm, other parts of the brain (specify area)

191.9 Y Y Central nervous system neoplasm, brain unspecified (try not to use)

194.0 Y Y Neuroblastoma only is reportable 208.9 N Y Leukemia, congenital

228.00 Y Y Hemangioma - skin > 4" diameter N (m) Hemangioma, of unspecified site N (m) Noncavernous, single, small hemangioma (less than 4" diameter) 228.02 Y Y Hemangioma, intracranial structures (specify region if possible)

228.03 N Y Hemangioma,

228.04 Y Y Hemangioma, intra abdominal structures (specify structure) 228.09 Y Y Hemangioma, of other sites (specify site)

228.1 Y Y Lymphangioma, any site (specify site)

237.70 N Y Neurofibromatosis, unspecified 237.71 N Y Y Von Recklinghausen's 237.72 N Y Acoustic neurofibromatosis Y Neurofibromatosis type II

238.8 Y Y Teratoma, abdomen New York State Congenital Malformation Registry 2 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______238.8 Y Y Teratoma, head and face Y Teratoma, Y Teratoma, other specified sites (please specify site) Y Teratoma, sacral, coccyxgeal

238.9 Y Y Teratoma, nos 243. N Y Hypothyroidism, congenital

246.1 N Y Congenital dyshormonogenic goiter

250.30 N Y with other coma adult onset type or unspecified Y Diabetes with other coma, type II

250.31 N Y Diabetes with other coma juvenile type Y Diabetes with other coma, type I

250.90 N Y Diabetes with unspecified complication adult onset type Y Diabetes with unspecified complication, type II Y Diabetes with unspecified complication, unspecified type

250.91 N Y Diabetes with unspecified complication, juvenile type Y Diabetes with unspecified complication, type I

253.0 N Y Acromegaly and gigantism

253.1 Y Y Other and unspecified anterior pituitary hyperfunction 253.2 N Y Panhypopituitarism, congenital

253.3 N Y Pituitary dwarfism

253.4 Y Y Other anterior pituitary disorders 253.5 N Y Diabetes insipidus

253.8 Y Y Other disorder of the pituitary & syndromes - diencephalohypophyseal origin

255.2 Y Y Adrenogenital disorders 257.8 N Y Testicular feminization

259.4 Y Y Dwarfism, not elsewhere classified

259.8 Y Y Other specified endocrine disorders Y Progeria

270.0 Y Y Disturbances of amino acid transport

270.1 N Y Phenylketonuria (PKU) New York State Congenital Malformation Registry 3 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______270.2 Y Y Albinism Y Other disturbances of aromatic amino-acid metabolism

270.3 Y Y Disturbances of branched-chain amino-acid metabolism

270.4 Y Y Disturbances of sulphur-bearing amino-acid metabolism 270.5 Y Y Disturbances of histadine metabolism

270.6 Y Y Disorders of urea cycle metabolism

270.7 Y Y Hyperglycinemia Y Other disturbances straight-chain amino-acid metabolism

270.8 Y Y 0ther specified disorders of amino-acid metabolism 271.0 Y Y Glycogenosis

271.1 N Y

271.8 Y Y Other specified disorders of carbohydrate transport 272.7 Y Y Lipidoses

273.0 Y Y Polyclonal hypergammaglobulenemia

273.1 Y Y Monoclonal paraproteinemia 273.2 Y Y Other paraproteinemias

273.3 Y Y Macroglobulinemia

273.8 Y Y Other disorders of plasma protein metabolism 275.0 Y Y Disorders of iron metabolism

275.1 Y Y Disorders of copper metabolism

275.3 Y Y Disorders of phosphorus metabolism (do not report if <1500g) Y Hypophosphatemic rickets

275.49 Y ONLY REPORT HYPOCALCEMIA IF ANOTHER METABOLIC ANOMALY IS PRESENT Y Disorders of calcium metabolism

275.8 Y Y Other specified disorders of mineral metabolism 275.9 Y Y Unspecified disorders of mineral metabolism

277.00 N Y without mention of meconium ileus

277.01 N Y Cystic fibrosis with mention of meconium ileus New York State Congenital Malformation Registry 4 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______277.1 Y Y Disorders of porphyrin metabolism

277.2 Y Y Other disorders of purine and pyrimidine metabolism 277.3 Y Y Amyloidosis

277.4 Y DO NOT REPORT TRANSIENT NEONATAL HYPERBILIRUBINEMIA Y Crigler-Najar (Gilberts) syndrome Y Disorders of excretion 277.5 Y Y Hurler's syndrome Y Lipochondrodystrophy Y Mucopolysaccharidosis

277.6 Y Y Alpha 1-antitrypsin deficiency Y Other deficiencies of circulatory enzymes

277.8 Y Y Other specified disorders of metabolism 279.01 N Y Selective IGA immunodeficiency

279.02 N Y Selective IGM immunodeficiency

279.03 N Y Other selective immunoglobulin deficiencies 279.04 N Y Congenital Hypogammaglobulinemia Y Congenital hypogammaglobulinemia 279.05 N Y Immunodeficiency with increased IGM Y Immunodeficiency with increased IgM 279.06 N Y Common variable immunodeficiency

279.09 Y Y Other immune deficiency

279.11 N Y DiGeorge's syndrome 279.12 N Y Wiskott-Aldrich syndrome

279.13 N Y Nezelof syndrome

279.19 Y Y Other deficiency of cell mediated immunity 279.2 Y Y Combined Immunty Deficiency

282.0 N Y Hereditary spherocytosis

282.1 N Y Hereditary elliptocytosis

282.2 Y Y Anemias due to disorders of glutathione metabolism Y Glucose-6-phosphate dehydrogenase [G-6-PD] deficiency New York State Congenital Malformation Registry 5 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______282.4 Y Y Thalassemias

282.60 N Y Sickle-cell anemia, unspecified 282.61 N Y Hb-S disease without mention of crisis

282.62 N Y Hb-S disease with crisis

282.63 N Y Sickle cell / Hb-c disease 282.69 Y Y Other sickle-cell anemia

282.7 Y Y Other hemoglobinopathies

282.8 Y Y Other specified hereditary anemias 284.0 Y Y Constitutional aplastic anemia Y Red cell aplasia 286.0 N Y Congenital factor VIII disorder Y Hemophilia 286.1 N Y Congenital factor IX disorder

286.2 N Y Congenital factor XI deficiencies

286.3 Y Y Congenital deficiency of other clotting factors 286.4 N Y Von Willebrand's disease

287.3 Y REPORT ONLY IF CONGENITAL OR HEREDITARY Y Kasabach-Merritt syndrome Y Primary thromboctyopenia 288.2 Y Y Genetic anomalies of leukocytes Y Pelger-Huet syndrome 289.7 Y Y Methemoglobinemia if congenital or hereditary

330.0 Y Y Leukodystrophy

330.1 Y Y Cerebral lipidoses Y Gangliosidosis Y Tay-Sachs disease

330.8 Y Y Cerebral Dengeration of childhood - specify

333.2 N Y Isaac-Mertens syndrome Y Myoclonus

333.91 N Y Hallervorden-Spatz (stiffman) syndrome New York State Congenital Malformation Registry 6 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______334.1 N Y Hereditary spastic paraplegia

334.2 Y Y Primary cerebellar degeneration 335.0 N Y Werdnig-Hoffman disease

335.11 N Y Kugelberg-Welander disease

343.0 N Y Diplegic cerebral palsy 343.1 N Y Hemiplegic cerebral palsy

343.2 N Y Quadriplegic cerebral palsy

343.9 N Y Infantile cerebral palsy, unspecified 345.6 Y Y Infantile spasms - congenital

352.6 N Y Moebius syndrome Y Multiple cranial nerve palsies

356.0 Y Y Hereditary peripheral neuropathy

356.1 Y Y Peroneal muscular atrophy 356.2 Y Y Hereditary sensory neuropathy

356.3 N Y Refsum's disease

359.0 Y Y Congenital hereditary muscular dystrophy 359.1 Y Y Hereditary progressive muscular dystrophy - specify

359.2 Y Y Myotonic disorders

359.8 Y Y Leigh syndrome Y Myopathy, congenital

378.71 N Y Duane-Stilling-Turk syndrome 425.3 N Y Endocardial fibroelastosis

426.7 Y Y Wolff-Parkinson-White syndrome

524.00 N Y Unspecified anomaly of jaw size 524.01 N Y Macrognathia Y Maxillary hyperplasia Y Prominent maxilla

524.02 N Y Mandibular hyperplasia New York State Congenital Malformation Registry 7 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______524.03 N Y Maxillary hypoplasia Y Micrognathia

524.04 N Y Mandibular hypoplasia

524.05 N Y Macrogenia 524.06 N Y Microgenia

524.09 Y Y Other specified anomalies of jaw (specify)

550.00 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia with gangrene, left only Y Inguinal hernia with gangrene, right only Y Inguinal hernia with gangrene, unilateral unspecified Y Inguinal hernia with gangrene, unspecified

550.02 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia with gangrene, bilateral

550.10 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia with obstruction, without gangrene, left only Y Inguinal hernia with obstruction, without gangrene, right only Y Inguinal hernia with obstruction, without gangrene, unilateral unspecified Y Inguinal hernia with obstruction, without gangrene, unspecified

550.12 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia with obstruction, without gangrene, bilateral

550.90 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia in female Y Inguinal hernia without obstruction w\o gangrene, unilateral unspecified Y Inguinal hernia without obstruction without gangrene, left only Y Inguinal hernia without obstruction without gangrene, right only Y Inguinal hernia without obstruction without gangrene, unspecified N Inguinal hernia in male 550.92 N PLEASE REPORT FEMALES ONLY Y Inguinal hernia without obstruction without gangrene, bilateral 551.00 N Y Femoral hernia with gangrene, left only Y Femoral hernia with gangrene, right only Y Femoral hernia with gangrene, unilateral unspecified Y Femoral hernia with gangrene, unspecified

551.02 N Y Femoral hernia with gangrene, bilateral

552.00 N Y Femoral hernia with obstruction, left only Y Femoral hernia with obstruction, right only Y Femoral hernia with obstruction, unilateral unspecified Y Femoral hernia with obstruction, unspecified New York State Congenital Malformation Registry 8 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______552.02 N Y Femoral hernia with obstruction, bilateral

553.00 N Y Femoral hernia without obstruction or gangrene, left only Y Femoral hernia without obstruction or gangrene, right only Y Femoral hernia without obstruction or gangrene, unilateral unspecified Y Femoral hernia without obstruction or gangrene, unspecified 553.02 N Y Femoral hernia without obstruction or gangrene, bilateral

553.29 N Y Epigastric hernia

581.9 Y Y Congenital nephrosis only is reportable 588.1 N Y Nephrogenic diabetes insipidus only is reprotable

658.8 Y Y Amnion nodosum Y Amniotic

740.0 N Y Absence of brain Y Y Amyelencephalus Y Y Hemianencephaly, hemicephaly Y Other anencephalus 740.1 N Y Craniorachischisis

740.2 N Y Closed Y Open iniencephaly Y Unspecified iniencephaly 741.00 Y PLEASE SPECIFY WHETHER ARNOLD CHIARI IS PRESENT Y with Y S.B./Arnold-Chiari/(rachischisis)/unspec Y S.B./Arnold-Chiari/()/unspec. Y S.B./Arnold-Chiari/lipomeningocele/unspec Y S.B./Arnold-Chiari/lipomeningomyelocele/unspec Y S.B./Arnold-Chiari/meningocele/unspec Y S.B./Arnold-Chiari/meningomyelocele/myelomeningocele/unspec. Y S.B./Arnold-Chiari/myelocele/unspec Y S.B./Arnold-Chiari/myelocystocele/hydromyelia/syringomyelocele/unspec Y S.B./hydrocephalus/(rachischisis)/unspec Y S.B./hydrocephalus/(spina bifida)/unspec. Y S.B./hydrocephalus/lipomeningocele/unspec Y S.B./hydrocephalus/lipomeningomyelocele/unspec Y S.B./hydrocephalus/meningocele/unspec. Y S.B./hydrocephalus/meningomyelocele/myelomeningocele/unspec Y S.B./hydrocephalus/myelocele/unspec Y Spina bifida aperta, unspecified, with hydrocephalus Y Spina bifida cystica, unspecified, with hydrocephalus and Arnold Chiari Y Spina bifida cystica, unspecified, with stenosed aqueduct of sylvius New York State Congenital Malformation Registry 9 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______741.00 Y Y Spina bifida with hydrocephalus/unspec Y Spina bifida, unspecified, with hydrocephalus of late onset

741.01 Y PLEASE SPECIFY WHETHER ARNOLD CHIARI IS PRESENT Y Other spina bifida, meningocele of cervical with hydrocephalus Y S.B./ hydrocephalus/(spina bifida)/cervical Y S.B./Arnold-Chiari/(spina bifida)/cervical Y S.B./Arnold-Chiari/lipomeningocele/cervical Y S.B./Arnold-Chiari/lipomeningomyelocele/cervical Y S.B./Arnold-Chiari/meningocele/cervical Y S.B./Arnold-Chiari/meningomyelocele/myelomeningocele/cervical Y S.B./Arnold-Chiari/myelocele/cervical Y S.B./Arnold-Chiari/myelocystocele/hydromyelia/syringomyelocele/cervical Y S.B./Arnold-Chiari/other spec. (rachischisis)/cervical Y S.B./hydrocephalus/(rachischisis)/cervical Y S.B./hydrocephalus/lipomeningocele/cervical Y S.B./hydrocephalus/lipomeningomyelocele/cervical Y S.B./hydrocephalus/meningocele/cervical Y S.B./hydrocephalus/meningomyelocele/myelomeningocele/cervical Y S.B./hydrocephalus/myelocele/cervical Y S.B./hydrocephalus/myelocystocele/hydromyelia/syringomy Y Spina bifida aperta, cervical, with hydrocephalus Y Spina bifida cystica, cervical, with hydrocephalus and Arnold Chiari Y Spina bifida cystica, cervical, with hydrocephalus without Arnold Chiari Y Spina bifida cystica, cervical, with stenosed aqueduct of sylvius Y Spina bifida cystica, cervical, with unspecified hydrocephalus Y Spina bifida, cervical, with hydrocephalus of late onset Y Spina bifida, meningocele, cervicothoracic, with hydrocephalus

741.02 Y PLEASE SPECIFY WHETHER ARNOLD CHIARI IS PRESENT Y Other Spina bifida, meningocele of thoracic/dorsal with hydrocephalus Y S.B./Arnold-Chiari/(rachischisis)/thoracic Y S.B./Arnold-Chiari/(spina bifida)/thoracic Y S.B./Arnold-Chiari/lipomeningocele/thoracic Y S.B./Arnold-Chiari/lipomeningomyelocele/thoracic Y S.B./Arnold-Chiari/meningocele/thoracic Y S.B./Arnold-Chiari/meningomyelocele/myelomeningocele/thoracic Y S.B./Arnold-Chiari/myelocele/thoracic Y S.B./Arnold-Chiari/myelocystocele/hydromyelia/syringomyelocele/thoracic Y S.B./hydrocephalus/(rachischisis)/thoracic Y S.B./hydrocephalus/(spina bifida)/thoracic Y S.B./hydrocephalus/lipomeningocele/thoracic Y S.B./hydrocephalus/lipomeningomyelocele/thoracic Y S.B./hydrocephalus/meningocele/thoracic Y S.B./hydrocephalus/meningomyelocele/myelomeningocele/thoracic Y S.B./hydrocephalus/myelocele/thoracic Y S.B./hydrocephalus/myelocystocele/hydromyelia/syringomy/thoracic Y Spina bifida aperta, thoracic, with hydrocephalus Y Spina bifida cystica, thoracic, with hydrocephalus and Arnold Chiari Y Spina bifida cystica, thoracic, with hydrocephalus without Arnold Chiari Y Spina bifida cystica, thoracic, with stenosed aqueduct of sylvius New York State Congenital Malformation Registry 10 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______741.02 Y Y Spina bifida, meningocele thoracolumbar, with hydrocephalus Y Spina bifida, thoracic, with hydrocephalus of late onset

741.03 Y PLEASE SPECIFY WHETHER ARNOLD CHIARI IS PRESENT Y Other Spina bifida, meningocele of lumbar with hydrocephalus Y S.B./Arnold-Chiari/(spina bifida)/lumbar Y S.B./Arnold-Chiari/(spina bifida)/sacral Y S.B./Arnold-Chiari/lipomeningocele/lumbar Y S.B./Arnold-Chiari/lipomeningocele/sacral Y S.B./Arnold-Chiari/lipomeningomyelocele/lumbar Y S.B./Arnold-Chiari/lipomeningomyelocele/sacral Y S.B./Arnold-Chiari/meningocele/lumbar Y S.B./Arnold-Chiari/meningocele/sacral Y S.B./Arnold-Chiari/meningomyelocele/myelomeningocele/lumbar Y S.B./Arnold-Chiari/meningomyelocele/myelomeningocele/sacral Y S.B./Arnold-Chiari/myelocele/lumbar Y S.B./Arnold-Chiari/myelocele/sacral Y S.B./Arnold-Chiari/myelocystocele/hydromyelia/syringomyelocele/lumbar Y S.B./Arnold-Chiari/myelocystocele/hydromyelia/syringomyelocele/sacral Y S.B./Arnold-Chiari/other spec. (rachischisis)/lumbar Y S.B./Arnold-Chiari/rachischisis)/sacral Y S.B./hydrocephalus/ (rachischisis)/sacral Y S.B./hydrocephalus/(spina bifida)/lumbar Y S.B./hydrocephalus/(spina bifida)/sacral Y S.B./hydrocephalus/lipomeningocele/lumbar Y S.B./hydrocephalus/lipomeningocele/sacral Y S.B./hydrocephalus/lipomeningomyelocele/lumbar Y S.B./hydrocephalus/lipomeningomyelocele/sacral Y S.B./hydrocephalus/meningocele/lumbar Y S.B./hydrocephalus/meningocele/sacral Y S.B./hydrocephalus/meningomyelocele/myelomeningocele/lumbar Y S.B./hydrocephalus/meningomyelocele/myelomeningocele/sacral Y S.B./hydrocephalus/myelocele/lumbar Y S.B./hydrocephalus/myelocele/sacral Y S.B./hydrocephalus/myelocystocele/hydromyelia/syringomy Y S.B./hydrocephalus/other spec. (rachischisis)/lumbar Y Spina bifida aperta, lumbar, with hydrocephalus Y Spina bifida cystica, lumbar, with hydrocephalus and Arnold Chiari Y Spina bifida cystica, lumbar, with hydrocephalus without Arnold Chiari Y Spina bifida cystica, lumbar, with stenosed aqueduct of sylvius Y Spina bifida cystica, sacral, with hydrocephalus without Arnold Chiari Y Spina bifida, lumbar, with hydrocephalus of late onset Y Spina bifida, meningocele, lumbosacral with hydrocephalus

741.90 Y Y Hydromeningocele (spinal), without hydrocephalus, unspecified site Y Hydromyelocele without hydrocephalus, unspecified site Y Lipomyelomeningocele, unspecified site Y Meningocele (spinal), without hydrocephalus, unspecified site Y Meningomyelocele, without hydrocephalus, unspecified site Y Myelocoele, without hydrocephalus, unspecified site Y Myelocystocele, without hydrocephalus, unspecified site New York State Congenital Malformation Registry 11 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______741.90 Y Y Myelomeningocele,without hydrocephalus, unspecified site Y Rachischisis, without hydrocephalus, unspecified site Y S.B./without hydrocephalus (aperta), unspecified site Y S.B./without hydrocephalus (spina bifida), unspecified site Y S.B./without hydrocephalus, unspecified site Y S.B./without hydrocephalus/(rachischisis)/unspec. Y S.B./without hydrocephalus/lipomeningocele/unspec. Y S.B./without hydrocephalus/lipomeningomyelocele/unspec. Y S.B./without hydrocephalus/meningocele/unspec. Y S.B./without hydrocephalus/meningomyelocele/myelomeningocele/unspec. Y S.B./without hydrocephalus/myelocele/unspec. Y S.B./without hydrocephalus/myelocystocele/hydromyelia/syringomyelocele/unsp Y Syringomyelocele, without hydrocephalus, unspecified site

741.91 Y Y Hydromeningocele (spinal), without hydrocephalus, cervical Y Hydromyelocele, without hydrocephalus, cervical Y Lipomyelomeningocele, cervical Y Meningocele (spinal), without hydrocephalus, cervical Y Meningomyelocele, without hydrocephalus, cervical Y Myelocele, without hydrocephalus, cervical Y Myelocystocele, without hydrocephalus, cervical Y Myelomeningocele, without hydrocephalus, cervical Y Rachischisis, without hydrocephalus, cervical Y S.B./ without hydrocephalus (cystica), cervical Y S.B./without hydrocephalus (achischisis),cervical Y S.B./without hydrocephalus (aperta), cervical Y S.B./without hydrocephalus(spina bifida), cervical Y S.B./without hydrocephalus, cervicothoracic Y S.B./without hydrocephalus/lipomeningocele/cervical Y S.B./without hydrocephalus/lipomeningomyelocele/cervical Y S.B./without hydrocephalus/meningocele/cervical Y S.B./without hydrocephalus/meningomyelocele/myelomeningocele/cervical Y S.B./without hydrocephalus/myelocele/cervical Y S.B./without hydrocephalus/myelocystocele/hydromyelia/syringomyelocele/cerv Y Syringomyelocele, without hydrocephalus, cervical

741.92 Y Y Hydromeningocele (spinal), without hydrocephalus, thoracic Y Hydromyelocele, without hydrocephalus, thoracic Y Lipomyelomeningocele, thoracic Y Meningocele (spinal), without hydrocephalus, thoracic Y Meningomyelocele, without hydrocephalus, thoracic Y Myelocoele, without hydrocephalus, thoracic Y Myelocystocele,without hydrocephalus, thoracic Y Myelomeningocele, without hydrocephalus, thoracic Y Rachischisis, without hydrocephalus, thoracic Y S.B./without hydrocephalus (aperta), thoracic Y S.B./without hydrocephalus (cystica), thoracic Y S.B./without hydrocephalus, thoracolumbar Y S.B./without hydrocephalus/(rachischisis)/thoracic Y S.B./without hydrocephalus/(spina bifida)/thoracic Y S.B./without hydrocephalus/lipomeningocele/thoracic New York State Congenital Malformation Registry 12 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______741.92 Y Y S.B./without hydrocephalus/lipomeningomyelocele/thoracic Y S.B./without hydrocephalus/meningocele/thoracic Y S.B./without hydrocephalus/meningomyelocele/myelomeningocele/thoracic Y S.B./without hydrocephalus/myelocele/thoracic Y S.B./without hydrocephalus/myelocystocele/hydromyelia/syringomyelocele/thor Y Syringomyelocele, without hydrocephalus, thoracic 741.93 Y Y Hydromeningocele (spinal), without hydrocephalus, lumbar Y Hydromeningocele (spinal), without hydrocephalus, sacral Y Hydromyelocele, without hydrocephalus, lumbar Y Hydromyelocele, without hydrocephalus, sacral Y Lipomyelomeningocele, lumbar Y Meningocele (spinal), without hydrocephalus, lumbar Y Meningocele (spinal), without hydrocephalus, sacral Y Meningomyelocele, without hydrocephalus, lumbar Y Myelocele, without hydrocephalus, lumbar Y Myelocystocele without hydrocephalus, sacral Y Myelocystocele, without hydrocephalus, lumbar Y Myelomeningocele, without hydrocephalus, lumbar Y Rachischisis, without hydrocephalus, lumbar Y S.B./without hydrocephalus (cystica), lumbar Y S.B./without hydrocephalus(aperta), lumbar Y S.B./without hydrocephalus, lumbrosacral Y S.B./without hydrocephalus/(rachischisis)/lumbar Y S.B./without hydrocephalus/(rachischisis)/sacral Y S.B./without hydrocephalus/(spina bifida)/lumbar Y S.B./without hydrocephalus/(spina bifida)/sacral Y S.B./without hydrocephalus/lipomeningocele/lumbar Y S.B./without hydrocephalus/lipomeningocele/sacral Y S.B./without hydrocephalus/lipomeningomyelocele/lumbar Y S.B./without hydrocephalus/lipomeningomyelocele/sacral Y S.B./without hydrocephalus/meningocele/lumbar Y S.B./without hydrocephalus/meningocele/sacral Y S.B./without hydrocephalus/meningomyelocele/myelomeningocele/lumbar Y S.B./without hydrocephalus/meningomyelocele/myelomeningocele/sacral Y S.B./without hydrocephalus/myelocele/lumbar Y S.B./without hydrocephalus/myelocele/sacral Y S.B./without hydrocephalus/myelocystocele/hydromyelia/syringomyelocele/lumb Y S.B./without hydrocephalus/myelocystocele/hydromyelia/syringomyelocele/sacr Y S.B/without hydrocephalus (cystica), sacral Y Syringomyelocele, without hydrocephalus, lumbar Y Syringomyelocele, without hydrocephalus, sacral 742.0 Y Y , frontal Y Encephalocele, occipital Y Encephalocele, other specified site (including mid line) Y Encephalocele, parietal Y Encephalocele, unspecified Y Encephalocystocele, frontal Y Encephalocystocele, occipital Y Encephalocystocele, other specified site New York State Congenital Malformation Registry 13 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______742.0 Y Y Encephalocystocele, parietal Y Encephalocystocele, unspecified Y Encephalomyelocele, frontal Y Encephalomyelocele, occipital Y Encephalomyelocele, other specified site Y Encephalomyelocele, parietal Y Encephalomyelocele, unspecified Y Hydroencephalocele, frontal Y Hydroencephalocele, occipital Y Hydroencephalocele, other specified site Y Hydroencephalocele, parietal Y Hydroencephalocele, unspecified Y Hydromeningocele, cranial, frontal Y Hydromeningocele, cranial, occipital Y Hydromeningocele, cranial, other specified site Y Hydromeningocele, cranial, parietal Y Hydromeningocele, cranial, unspecified Y Meningocele, cerebral, frontal Y Meningocele, cerebral, occipital Y Meningocele, cerebral, other specified site Y Meningocele, cerebral, parietal Y Meningocele, cerebral, unspecified Y Meningoencephalocele, frontal Y Meningoencephalocele, occipital Y Meningoencephalocele, other specified site Y Meningoencephalocele, parietal Y Meningoencephalocele, unspecified 742.1 N Y Galloway syndrome Y Hydromicrocephaly Y Micrencephaly Y Microcephalus

742.2 Y Y Absent septum pellucidum Y Agenesis of corpus callosum Y Agyria and Y Anomalies of cerebellum Y Anomalies of cerebrum Y Anomalies of hypothalamus Y Arhinencephaly Y Y Microgyria, Y Other anomalies of corpus callosum Y Other specified reduction defect of brain Y Partial agenesis of corpus callosum Y Unspecified reduction defect of brain (try not to use)

742.3 Y Y Anomalies of aqueduct of sylvius Y Aqueduct of sylvius: obstruction, congenital Y Aqueduct of sylvius: stenosis Y Atresia of foramina of magendie and luschka New York State Congenital Malformation Registry 14 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______742.3 Y Y Communicating hydrocephaly Y Dandy Walker syndrome Y Y Other specified hydrocephaly Y Unspecified hydrocephaly, nos Y Ventriculomegaly (verify not ) 742.4 Y Y Arnold-Chiari with no mention of spina bifida Y Congenital cerebral Y Cortical atrophy Y Cranial nerve defects Y Cystic encephalomalacia Y Encephalomalacia Y Enlarged brain and/or head Y Y Macroencephaly Y Macrogyria Y Y Other specified anomalies of brain Y Y Porencephalic cysts Y Y Y Single cerebral cyst Y Small brain Y Ulegyria Y Ventricular cysts 742.51 N Y

742.53 N Y Hydromyelia Y Hydrorhachis

742.59 Y Y Amyelia Y Atelomyelia Y Congenital tethered cord Y Dysplasia of Y Hypoplasia of spinal cord Y Myelatelia Y Myelodysplasia Y Other cauda equina anomaly Y Other specified anomaly of spinal cord and membranes Y Tethered filum terminale

742.8 Y Y Agenesis of nerve Y Displacement of brachial plexus Y Familial dysautonomia Y Jaw-winking syndrome Y Marcus-Gunn syndrome Y Other specified anomaly of nervous system Y Riley-Day syndrome New York State Congenital Malformation Registry 15 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______742.9 Y Y Brain, unspecified anomamly Y Congenital deformity of brain Y Congenital deformity of nervous system Y Congenital deformity of spinal cord Y Congenital disease of brain Y Congenital disease of nervous system Y Congenital disease of spinal cord Y Congenital lesion of brain Y Congenital lesion of nervous system Y Congenital lesion of spinal cord Y Nervous system, unspecified anomaly Y Spinal cord, unspecified anomaly (try not to use) 743.00 N Y Agenesis of Y Aplasia of eye Y Clinical anophthalmos, unspecified Y Congenital absence of eye

743.03 N Y , congenital

743.06 N Y 743.10 N Y Dysplasia of eye Y Hypoplasia of eye Y Microphthalmos, small Y Microphthalmos, unspecified Y Rudimentary eye 743.11 N Y Simple microphthalmos

743.12 N Y Microphthalmos associated with other anomalies of eye and adnexa

743.20 N Y , unspecified Y Congenital , unspecified Y Enlarged eye, nos Y Hydrophthalmos, unspecified 743.21 N Y Congenital glaucoma, simple Y Hydrophthalmos, simple Y Simple buphthalmos

743.22 N Y Buphthalmos associated with other ocular anomalies Y Congenital Y Enlarged Y 743.30 N Y , nos

743.31 N Y Capsular and subcapsular cataract Y Cataract, anterior polar New York State Congenital Malformation Registry 16 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______743.32 N Y Cortical and zonular cataract

743.33 N Y Anterior and posterior axial embryonal cataract Y Nuclear cataract

743.34 N Y Total and subtotal cataract, congenital 743.35 N Y Absence of Y Congenital 743.36 Y Y Anomalies of lens shape Y of lens Y Microphakia Y Spherical lens Y Spherophakia 743.37 N Y Congenital ectopic lens Y Displaced lens 743.39 Y Y Cataract, other specified Y Other specified lens anomaly Y Unspecified lens anomaly

743.41 Y Y Anomalies of corneal size and shape Y Microcornea

743.42 N Y Corneal opacities, interfering with vision, congenital 743.43 N Y Other corneal opacities, congenital

743.44 Y Y Axenfeld's anomaly Y Peter's anomaly Y Rieger's anomaly Y Specified anomaly of anterior chamber, chamber angle, etc.

743.45 N Y Absence of Y

743.46 Y Y , congenital Y Atresia of Y Coloboma of iris Y Corectopia Y Ectopic pupil Y Iridial remnants Y Other anomalies of iris Y Other specified anomalies of Y Polycoria

743.48 Y Y Multiple and combined anomaly of anterior segment

743.49 Y Y Other corneal anomaly New York State Congenital Malformation Registry 17 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______743.49 Y Y Other specified and anomalies of anterior segments Y Unspecified colobomas and anomalies of anterior segments

743.51 Y Y Congenital vitreous opacity Y Specified anomaly of vitreous humour

743.52 N Y Fundus coloboma

743.53 N Y Chorioretinal degeneration, congenital 743.54 N Y Congenital folds and cysts of posterior segment

743.55 N Y Congenital macular changes

743.56 Y Y Other retinal changes, congenital Y Specified anomaly of retina

743.57 Y Y Coloboma of Y Hypoplastic Y Specified anomaly of optic disc

743.58 Y Y Congenital retinal aneurysm Y Vascular anomalies

743.59 Y Y Coloboma of Y Other specified anomaly of posterior segment of eye Y Specified anomaly of choroid Y Unspecified anomaly of posterior segment of eye

743.61 N Y Blepharoptosis Y Congenital

743.62 Y Y Ablepharon Y Absence of Y Accessory eyelid Y Coloboma of the Y Congenital deformities of eyelids Y Y N (m) N (m) Small or narrow palpebral fissures

743.63 Y Y telecanthus N (m) Absence of N (m) Absence, agenesis, of cilia N (m) Fused eyelids (if birth weight greater than 1000 gms) N (m) Other specified congenital anomaly of eyelid N (m) Weakness of eyelids

743.66 Y Y Specified congenital anomalies of Y exophthalmaos New York State Congenital Malformation Registry 18 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______743.69 Y Y Accessory eye muscles

743.8 Y Y Epibulbar dermoid cyst Y Other specified anomaly of eye

743.9 Y Y Eye anomaly, not otherwise specified Y Eye deformity, not otherwise specified (try not to use) Y Unspecified anomaly of eye (any part)

744.00 Y Y Unspecified anomaly of ear with hearing impairment

744.01 N Y Absence of auditory canal Y Absence of auricle (pinna) Y Absence of external auditory meatus Y Absence of external ear 744.02 Y Y Atresia or stricture of auditory canal (external) Y Other anomaly of external ear with hearing impairment Y Stricture of external auditory meatus

744.03 Y Y Anomaly of middle ear, except ossicles Y Atresia or stricture of osseous meatus (ear)

744.04 N Y Anomalies of ear ossicles Y Fusion of ossicles

744.05 Y Y Anomaly of inner ear Y Congenital anomaly of membranous labyrinth Y Congenital anomaly of organ of corti

744.09 Y Y Absence of ear, not otherwise specified

744.24 Y Y Absence of eustachian tube Y Specified anomalies of eustachian tube

744.83 N Y Macrostomia (large mouth) 744.84 N Y Microstomia (small mouth)

744.89 Y Y Cleft face (excluding cleft lip and palate 749) Y Other specified anomaly of face/neck N (m) Abnormal facies N (m) Cranial facial dysmorphosis N (m) Dysmorphic facies

744.9 Y Y Congenital anomaly of face, not otherwise specified Y Congenital anomaly of neck, not otherwise specified N Short neck

745.0 Y Y Abnormal communication between aorta and pulmonary artery Y Absent septum between aorta and pulmonary artery New York State Congenital Malformation Registry 19 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______745.0 Y Y Aortic septal defect Y Aortopulmonary window Y Common aortopulmonary trunk Y Common truncus (see 747.29 for pseudotruncus) Y Persistent truncus arteriosus

745.10 Y Y Classical transposition of great vessels Y D-transposition Y Transposition of great vessels, complete (no vsd) 745.11 Y Y Dextratransposition of aorta Y Double outlet right ventricle Y Origin of both great vessels from right ventricle Y Taussig Bing syndrome Y Transposition of great vessels, incomplete (with vsd) 745.12 Y Y Corrected transposition of great vessels, Y L-transposition, ventricular inversion 745.19 Y Y Other specific transposition of great vessels Y Unspecified transposition of great vessels 745.2 Y Y Fallot's pentalogy Y Fallot's tetralogy Y Fallot's tetralogy plus atrial septal defect

745.3 Y Y Common ventricle Y Cor triloculare biatriatum Y Single ventricle

745.4 Y Y Interventricular septal defect Y Left ventricular-right atrial communication Y Malalignment, type I (subarterial, subaortic, subpulmonic) Y Muscular VSD type IV (Roger's disease) Y Muscular, type VI Y Other specified ventricular septal defect Y Perimembranous VSD type II (Gerbode) Y Probable ventricular septal defect Y Ventricular septal defect, not otherwise specified 745.5 Y Y Atrial septal defect, not otherwise specified Y Atrium secundum defect Y Auricular septal defect, nos Y Auricular septal defect, not otherwise specified Y Lutembachers syndrome Y Ostium (septum) secundum defect Y Ostium secundum patent or persistent Y Other specified atrial septal defect Y PDA (Birth weight >=1500g) N Foramen ovale (in the first 6 weeks of life or birth) N Fossa ovalis defect New York State Congenital Malformation Registry 20 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______745.5 Y N Nonclosure of foramen ovale, not otherwise specified N PDA (Birth weight < 1500g) N Partial foramen ovale N Patent foramen ovale (PFO) N Persistent foramen ovale

745.60 Y Y Endocardial cushion defect, nos

745.61 N Y Ostium primum defects Y Persistent ostium primum

745.69 Y Y Absence of atrial septum Y Atrioventricular canal type VSD Y Common atrioventricular canal Y Common atrioventricular canal with VSD Y Cor triloculare biventriculare Y Other endocardial cushion defects Y Single common atrium 745.7 N Y Absence of atrial and ventricular septa Y Cor biloculare Y Two chambered heart

745.8 Y Y Other specified defects of septal closure 745.9 Y Y Unspecified defect of septal closure

746.00 Y Y Unspecified anomaly of pulmonary valve

746.01 N Y Atresia, hypoplasia of pulmonary valve Y Congenital absence of pulmonary valve

746.02 N Y Stenosis of pulmonary valve 746.09 Y Y Bicuspid pulmonary valve Y Insufficiency of pulmonary valve Y Other specified anomaly of pulmonary valve Y Pulmonary regurgitation Y Trilogy of fallot 746.1 Y Y Absence of tricuspid valve Y Tricuspid atresia Y Tricuspid hypoplasia Y Tricuspid stenosis

746.2 N Y Ebstein's anomaly

746.3 N Y Congenital stenosis of aortic valve

746.4 Y Y Bicuspid aortic valve Y Congenital aortic insufficiency New York State Congenital Malformation Registry 21 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______746.4 Y Y Congenital insufficiency of aortic valve

746.5 Y Y Congenital mitral stenosis Y Fused commissure of mitral valve Y Parachute deformity of mitral valve Y Supernumerary cusps 746.6 Y Y Congenital mitral insufficiency Y Mitral valve prolapse Y Mitral valve regurgitation

746.7 Y Y Hypoplastic left heart syndrome 746.81 N Y Subaortic stenosis Y Subvalvular aortic stenosis 746.82 N Y Cor triatriatum

746.83 Y Y Pulmonary infundibular (subvalvular) stenosis

746.84 Y Y Hypoplastic left ventricle Y Hypoplastic right heart (ventricle) Y Hypoplastic ventricle, nos Y Obstructive anomalies of heart, nec Y Uhl's disease

746.85 Y Y Absence of coronary artery Y Anomalies of coronary artery or sinus Y Anomalous origin or communication of coronary artery Y Coronary artery arising from aorta or pulmonary trunk Y Single coronary artery

746.86 Y Y Complete or incomplete atrioventricular (AV) block Y Congenital heart block

746.87 Y Y Abdominal heart Y Dextrocardia with no mention of Y Dextrocardia without situs inversus (situs solitus) Y Ectopia (ectopic) cordis (mesocordia) Y Levocardia

746.89 Y Y Absence of mitral valve Y Anomalies of myocardium Y Anomalies of pericardium Y Aortic valve atresia Y Atresia of cardiac vein Y Atresia of mitral valve Y Cardiomyopathy, hypertrophic Y Conduction defects, nos Y Congenital cardiomegaly Y Congenital diverticulum, left ventricle New York State Congenital Malformation Registry 22 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______746.89 Y Y Congenital pericardial defect Y Heart murmur- do not report if transient Y Hypoplasia of cardiac vein Y Hypoplasia of mitral valve Y Other defects of the atria Y Other specified anomaly of heart Y Other specified anomaly of the aortic valves Y Septal hypertrophy Y Tricuspid insufficiency Y Tricuspid valve regurgitation - do not report if transient Y Unspecified anomaly of the aortic valves Y Ventricular hypertrophy (right or left) 746.9 Y Y Absence of papillary muscle of luthisis Y Acyanotic congenital heart disease, not otherwise specified Y Anomalous bands of heart Y Anomaly of papillary muscle Y Blue baby Y Congenital heart disease Y Cyanotic congenital heart disease, not otherwise specified Y Unspecified anomaly of heart Y Unspecified anomaly of heart valves (try not to use)

747.0 Y DO NOT REPORT IF BIRTHWEIGHT IS LESS THAN 1,500 GRAMS Y Patent ductus arteriosis closed with medication Y Patent ductus arteriosus Y Patent ductus botalli Y Persistent ductus arteriosus Y Probable patent ductus arteriosus

747.10 Y Y Hypoplasia of aortic arch Y Postductal (distal) coarctation of aorta Y Preductal (proximal) coarctation of aorta Y Unspecified coarctation of aorta

747.11 N Y Interrupted aortic arch 747.20 Y Y Unspecified anomaly of aorta

747.21 Y Y Aberrant subclavian artery Y Anomalies of aortic arch Y Anomalous origin, right subclavian artery Y Dextroposition of aorta Y Double aortic arch Y Kommerell's diverticulum Y Overriding aorta Y Persistent convolutions, aortic arch Y Persistent right aortic arch Y Vascular ring (aorta) Y Vascular ring compression of New York State Congenital Malformation Registry 23 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______747.22 Y Y Absence of aorta Y Aplasia of aorta Y Atresia of aorta Y Hypoplasia of aorta Y Hypoplastic aortic isthmas Y Stenosis of aorta Y Stricture of aorta Y Supra aortic stenosis (supravalvular) Y Tubular hypoplasia of aorta 747.29 Y Y Aneurysm of sinus of valsalva Y Congenital aneurysm of aorta Y Congenital dilatation of aorta Y Other specified anomaly of aorta Y Pseudotruncus arteriousus 747.3 Y Y Aneurysm of pulmonary artery Y Coarctation of pulmonary artery Y Dilatation of pulmonary artery Y Other specified anomaly of pulmonary artery Y Peripheral pulmonary artery stenosis Y Pulmonary arteriovenous malformation or aneurysm Y Pulmonary artery absence Y Pulmonary artery agenesis Y Pulmonary artery atresia Y Pulmonary artery hypoplasia Y Unspecified anomaly of pulmonary artery 747.40 Y Y Anomaly not otherwise specified of pulmonary veins Y Anomaly not otherwise specified of vena cava Y Unspecified anomaly of great veins

747.41 Y Y Total anomalous pulmonary venous connection Y Total anomalous pulmonary venous return Y Total anomalous pulmonary venous return: subdiaphragmatic Y Total anomalous pulmonary venous return: supradiaphragmatic 747.42 N Y Partial anomalous pulmonary venous connection Y Partial anomalous pulmonary venous return 747.49 Y Y Absence of vena cava (inferior) Y Anomalous portal vein termination Y Other specified anomaly of great veins Y Persistent left posterior cardinal vein Y Persistent left superior vena cava Y Portal vein - hepatic artery Y Scimitar syndrome Y Stenosis of inferior vena cava Y Stenosis of superior vena cava Y Transposition of pulmonary veins nos New York State Congenital Malformation Registry 24 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______747.6 Y Y Absence of artery, not elsewhere classified Y Arteriovenous malformation (peripheral) Y Atresia of artery Y Congenital phlebectasia Y Congenital stricture, artery Y Congenital varix Y Other anomaly of peripheral arteries Y Other anomaly of peripheral veins Y Stenosis of renal artery 747.60 Y Y Anomaly of the peripheral vascular system, unspecified site Y Unspecified anomaly of peripheral vascular system 747.61 Y Y Gastrointestinal vessel anomaly

747.62 Y Y Multiple renal arteries Y Other anomaly of renal artery Y Renal vessel anomaly 747.63 Y Y Upper vessel anomaly

747.64 Y Y Lower limb vessel anomaly

747.69 Y Y Anomalies of other specified sites of peripheral vascular system Y Congenital aneurysm (peripheral) Y Other anomaly of peripheral vascular system

747.81 Y Y Anomalies of cerebrovascular system Y Arteriovenous (malformation) aneurysm of brain Y Other anomaly of cerebral vessels Y Vein of galen

747.82 Y Y Anomaly of spinal vessel 747.89 Y Y Aneurysm, congenital, specified site, not elsewhere classified Y Other specified anomaly of circulatory system 747.9 Y Y Unspecified anomaly of circulatory system

748.0 Y Y Atresia of nares, anterior Y Atresia of nares, posterior Y Y Choanal stenosis Y Congenital stenosis of nares

748.1 Y Y Accessory nose Y Agenesis or underdevelopment of nose Y Fissured, notched, or cleft nose Y Perforated nasal septum Y Sinus wall anomaly Y Tubular nose, single nostril, proboscis New York State Congenital Malformation Registry 25 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______748.1 Y Y Unspecified anomaly of nose N (m) Absent nasal septum N (m) Anteverted nares N (m) Deviation of nasal septum N (m) Flat or wide nasal bridge or other minor nose malformation N (m) Notched or hypoplastic alae nasi N (m) Other anomalies of nose N (m) Small nares N (m) Small nose and nostril N (m) Upturned nose N (m) Wide nasal bridge

748.2 N Y Web of larynx glottic Y Web of larynx nos Y Web of larynx subglottic 748.3 Y Y Absence or agenesis of Y Absence or agenesis of larynx Y Absence or agenesis of trachea Y Anomalies of larynx and supporting cartilage Y Anomaly of cricoid cartilage Y Anomaly of epiglottis Y Anomaly of thyroid cartilage Y Anomaly of tracheal cartilage Y Atresia of epiglottis Y Atresia of glottis Y Atresia of larynx Y Atresia of trachea Y Cleft larynx, laryngotracheoesophageal cleft Y Cleft thyroid, cartilage, congenital Y Congenital dilation, trachea Y Congenital laryngeal stridor, nos Y Congenital stenosis of larynx Y Congenital stenosis of trachea Y Congenital Y Congenital tracheocele Y Diverticulum of bronchus Y Diverticulum of trachea Y Fissure of epiglottis Y Laryngocele Y Other anomaly of bronchus Y Other anomaly of trachea Y Other specified anomaly of larynx and bronchus Y Posterior cleft of cricoid cartilage (congenital) Y Rudimentary tracheal bronchus Y Stenosis of bronchus Y Unspecified anomaly of larynx, trachea, and bronchus N N

748.4 Y Y Honeycomb New York State Congenital Malformation Registry 26 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______748.4 Y Y Multiple cysts, lung Y Other specified congenital cystic lung Y Polycystic lung Y Single cyst, lung

748.5 Y Y Absence of lung (lobe) Y Agenesis or aplasia of lung Y Fusion of lobes of lung Y Hypoplasia of lobe of lung Y Hypoplasia of lung Y Other specified dysplasia of lung Y Y Sequestration of lung Y Unspecified dysplasia of lung

748.60 Y Y Unspecified anomalies of lung

748.61 N Y 748.69 Y Y Accessory lobe of lung Y Accessory lung Y Anomaly of lung, unspecified Y Azygos lobe (fissure), lung Y Bilobar right lung Y Ectopic tissues in lung Y Other anomaly of lung Y Right lung with left lung bronchial pattern 748.8 Y Y Abnormal communication betwith pericardial/pleural sacs Y Anomaly of pleura Y Atresia of nasopharynx Y Congenital cyst of mediastinum Y Congenital lobar emphysema Y of Y Other specified anomaly

748.9 Y Y Absence of respiratory organ, nos Y Anomaly of respiratory system, nos Y Unspecified anomaly of respiratory system 749.00 Y Y Cleft hard palate, central Y Cleft hard palate, nos Y Cleft palate, nos Y Cleft soft palate alone, central Y Cleft soft palate alone, nos Y Palatoschisis

749.01 N Y Cleft hard palate, unilateral Y Cleft hard palate, unilateral, left Y Cleft hard palate, unilateral, right Y Complete cleft palate, unilateral New York State Congenital Malformation Registry 27 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______749.01 N Y Complete cleft palate, unilateral, left Y Complete cleft palate, unilateral, right

749.02 Y Y Bifid uvula Y Cleft soft palate alone, unilateral Y Cleft soft palate alone, unilateral, left Y Cleft soft palate alone, unilateral, right Y Cleft uvula Y Incomplete cleft palate, unilateral Y Incomplete cleft palate, unilateral, left Y Incomplete cleft palate, unilateral, right

749.03 N Y Cleft hard palate, bilateral Y Complete cleft palate, bilateral

749.04 Y Y Cleft soft palate alone, bilateral Y Incomplete cleft palate, bilateral

749.10 Y Y Cheiloschisis Y Cleft gingiva Y Cleft gum Y Cleft lip, bilateral Y Cleft lip, central Y Cleft lip, unilateral Y Cleft lip, unilateral, left Y Cleft lip, unilateral, right Y Cleft lip, unspecified Y Congenital fissure of lip Y Harelip Y Incomplete form of cleft lip (microform) Y Labium leporinum

749.11 N Y Complete cleft lip, unilateral Y Complete cleft lip, unilateral, left Y Complete cleft lip, unilateral, right

749.12 Y Y Incomplete cleft lip, unilateral Y Incomplete cleft lip, unilateral, left Y Incomplete cleft lip, unilateral, right 749.13 N Y Complete cleft lip, bilateral

749.14 Y Y Incomplete cleft lip, bilateral

749.20 Y Y Cheilopalatoschisis Y Cleft palate with cleft lip Y Cleft palate with cleft lip, unspecified

749.21 N Y Complete cleft palate and lip, unilateral Y Complete cleft palate and lip, unilateral, left Y Complete cleft palate and lip, unilateral, right New York State Congenital Malformation Registry 28 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______749.22 Y Y Incomplete cleft palate and lip, unilateral Y Incomplete cleft palate and lip, unilateral, left Y Incomplete cleft palate and lip, unilateral, right 749.23 N Y Complete cleft palate and lip, bilateral

749.24 Y Y Incomplete cleft palate and lip, bilateral

749.25 Y Y Cleft lip, with any cleft palate, bilateral Y Cleft lip, with any cleft palate, central Y Cleft lip, with any cleft palate, unilateral Y Cleft lip, with any cleft palate, unilateral, left Y Cleft lip, with any cleft palate, unilateral, right Y Other combinations cleft palate and lip

750.11 N Y Absence of Y Aglossia

750.21 N Y Absence of salivary gland

750.22 N Y Accessory salivary gland 750.23 N Y Atresia, salivary duct Y Imperforate salivary duct 750.24 N Y Congenital fistula of salivary gland

750.25 Y Y Lip fistulae or pits

750.26 Y PLEASE DO REPORT WITH 760.71 or 760.79 Y Absence of uvula Y Other anomaly of palate Y Other anomaly of salivary glands or ducts Y Other specified anomaly of mouth Y high arched palate N Long philtrum N Notched lip N Other lip anomaly N Prominent philtrum 750.27 N Y Diverticulum of Y Pharyngeal pouch 750.29 Y Y Imperforate pharynx Y Other specified anomalies of pharynx 750.3 Y Y Absent Y Bronchoesophageal fistula, with or without Y Congenital esophageal ring Y Esophageal atresia, with mention of t-e fistula Y Esophageal atresia,without mention of t-e fistula New York State Congenital Malformation Registry 29 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______750.3 Y Y Y Imperforate esophagus Y Other tracheoesophageal anomaly Y Stenosis or stricture of esophagus Y T E fistula without esophageal atresia Y Tracheoesophageal fistula "h" type 750.4 Y Y Congenital dilatation of esophagus Y Displacement of esophagus Y Diverticulum of esophagus Y Duplication of esophagus Y Esophageal pouch Y Giant esophagus Y Other specified anomaly of esophagus

750.5 Y Y Congenital hypertrophic Y Congenital or infantile hypertrophy of pylorus Y Congenital or infantile stricture of pylorus Y Other congenital pyloric obstruction

750.6 N Y Cardia displacement through esophageal hiatus Y Congenital hiatus hernia Y Partial thoracic

750.7 Y Y Achalasia of cardia, congenital Y Cardiospasm Y Congenital hourglass stomach Y Displacement or transposition of stomach Y Diverticulum of stomach Y Duplication of stomach Y Megalogastria Y Microgastria Y Other specified anomaly of stomach 750.8 Y Y Other specified anomaly of upper alimentary tract

750.9 Y Y Unspecified anomaly of esophagus Y Unspecified anomaly of mouth and pharynx Y Unspecified anomaly of stomach Y Unspecified anomaly of upper alimentary tract

751.1 Y Y Absence of Y Absence of Y Absence of Y Absence of Y Absence of small intestine with fistula Y Atresia of duodenum Y Atresia of ileum Y Atresia of jejunum Y Atresia of small intestine Y Atresia of small intestine with fistula New York State Congenital Malformation Registry 30 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______751.1 Y Y Congenital obstruction of small intestine or intestine nos Y Congenital stricture of small intestine or intestine Y Imperforate jejunum Y Stenosis of duodenum Y Stenosis of ileum Y Stenosis of jejunum Y Stenosis of small intestine Y Stenosis of small intestine with fistula

751.2 Y Y Absence of with fistula Y Absence of anus without fistula. Y Absence of appendix Y Absence of (colon) Y Absence of , with fistula Y Absence of rectum,without fistula Y Atresia of anus with fistula Y Atresia of appendix Y Atresia of anus without fistula. Y Atresia of large intestine (colon) Y Atresia of rectum, with fistula Y Atresia of rectum, without fistula Y Congenital or infantile obstruction of large intestine Y Congenital or infantile occlusion of anus with fistula Y Congenital or infantile occlusion of anus without fistula Y Congenital or infantile stricture of anus with fistula Y Congenital or infantile stricture of anus without fistula Y with fistula Y Imperforate anus without fistula Y Imperforate rectum, without fistula Y Imperforate rectum,with fistula Y Stenosis of anus with fistula Y Stenosis of anus without fistula. Y Stenosis of appendix Y Stenosis of large intestine (colon) Y Stenosis of rectum, without fistula Y Stenosis rectum, with fistula Y Stricture of rectum, with fistula Y Stricture of rectum, without fistula

751.3 Y Y Congenital dilation of colon Y Congenital macrocolon, not aganglionic Y Congenital Y Hirschsprung's disease, nos Y Long segment Hirschsprung's disease Y Short segment Hirschsprung's disease Y Total intestinal aganglionosis

751.4 Y Y Anomalies of Y Congenital adhesions/bands of omentum and peritoneum Y Failure of rotation of cecum or colon Y Incomplete rotation of cecum or colon New York State Congenital Malformation Registry 31 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______751.4 Y Y Insufficient rotation of cecum or colon Y Jackson's membrane Y Ladd's bands Y Malrotation of cecum and/or colon Y Malrotation of small intestine alone Y Other specified malrotation Y Universal mesentery Y Unspecified malrotation

751.5 Y Y Congenital anal fistula Y Congenital diverticulum, colon Y Y Duodenal web Y Duplication cyst ileum Y Duplication of anus Y Duplication of appendix Y Duplication of cecum Y Duplication of intestine Y Ectopic (displaced) anus Y Enterogenous cyst Y Megaloduodenum Y Microcolon Y Other specified anomaly of intestine Y Persistent Y Transposition of appendix Y Transposition of colon Y Transposition of intestine Y Unspecified anomaly of intestine Y N Megaloappendix N Rectal fissure

751.60 Y Y Unspecified anomaly of , ducts and 751.61 N Y Agenesis or atresia of bile ducts Y Y Congenital absence of (common) or passage Y Congenital hypoplasia of bile duct (common) or passage Y Congenital obstruction of bile duct (common) or passage Y Congenital stricture of bile duct (common) or passage

751.62 N Y Cystic or fibrocystic disease of liver 751.69 Y Y Absence or agenesis of liver, partial Y Absence or agenesis of liver, total Y Accessory hepatic ducts Y Accessory liver Y Agenesis or atresia of hepatic ducts Y Agenesis or hypoplasia of gallbladder Y Alagilles syndrome Y Anomalies of , nec New York State Congenital Malformation Registry 32 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______751.69 Y Y Y Duplication of biliary duct Y Duplication of cystic duct Y Duplication of gallbladder Y Duplication of liver Y Floating gallbladder Y Floating liver Y Intrahepatic gallbladder Y Other anomaly of gallbladder Y Other anomaly of hepatic or bile ducts Y Other anomaly of liver N 751.7 Y Y Absence or agenesis of Y Y Y Ectopic pancreas Y Ectopic pancreatic tissue Y Hypoplasia of pancreas Y Other specified anomaly of pancreas Y Pancreatic cyst Y Pancreatic heterotopia Y Unspecified anomaly of pancreas

751.8 Y Y Absence of alimentary tract, nos Y Congenital malposition of digestive organs, nos Y Duplication of alimentary tract Y Ectopic digestive organs, nos Y Other specified anomaly of digestive system

751.9 Y Y Obstruction of digestive system, nos Y Unspecified anomaly of digestive system

752.0 Y Y Absence or agenesis of ovaries Y Accessory ovary Y Cystic ovary Y Ectopic ovary Y Multiple ovarian cysts Y Other specified anomaly of ovaries Y Streak ovary Y Unspecified anomaly of ovaries

752.10 Y Y Unspecified anomaly of broad ligaments Y Unspecified anomaly of fallopian tube

752.11 Y Y Cyst of Gartner's duct Y Cyst of mesenteric remnant Y Embryonic cyst of fallopian tubes Y Epoophoron cyst Y Fimbrial cyst Y Parovarian cyst New York State Congenital Malformation Registry 33 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______752.19 Y Y Absence of fallopian tube or broad ligament Y Accessory fallopian tube or broad ligament Y Atresia of fallopian tube or broad ligament Y Other specified anomaly of fallopian tubes and broad ligaments

752.2 N Y Didelphic uterus Y Doubling of uterus

752.3 Y Y Absence or agenesis of uterus Y Aplasia of uterus Y Bicornuate uterus Y Displaced uterus Y Fistula of uterus with digestive or urinary tract Y Other anomaly of uterus Y Uterointestinal fistula Y Uterovesical fistula Y Uterus unicornis Y Uterus with only one functioning horn 752.40 Y Y Unspecified anomaly cervix,, or external female genitalia

752.49 Y Y Absence of clitoris Y Absence or atresia of vagina, complete or partial Y Absence or other anomaly of vulva Y Absence, atresia or agenesis of cervix Y Agenesis of clitoris Y Congenital Y Congenital stenosis or stricture of cervical canal Y Congenital stenosis or stricture of vagina Y Fusion of vulva Y Hypoplastic labia majora Y Labial adhesions Y Other specified anomaly of cervix or vagina Y Other specified anomaly of external female genitalia N Clitoromegaly N Enlarged clitoris N Other anomaly of clitoris N Prominent clitoris N Vaginal or hymenal tags 752.51 Y Y , bilateral (birthweight greater than 2,500 grams) Y Cryptorchidism, left only (birthweight greater than 2,500 grams) Y Cryptorchidism, nos Y Cryptorchidism, rt only (birthweight greater than 2,500 grams) Y Cryptorchidism, unilateral (birthweight greater than 2,500 grams) Y Ectopic testis, bilateral Y Ectopic testis, left only Y Ectopic testis, nos Y Ectopic testis, right only Y Left undescended (birthweight greater than 2,500 grams) Y Right undescended testicle (birthweight greater than 2,500 grams) New York State Congenital Malformation Registry 34 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______752.51 Y Y Undescended testicle, bilateral (birthweight greater than 2,500 grams) Y Undescended testicle, nos (birthweight greater than 2,500 grams) Y Undescended testicle, unilateral (birthweight greater than 2,500 grams) N Ectopic testis, unilateral

752.61 N PLEASE SPECIFY DEGREE OR SITE OF Y Hypospadias (alone), nos Y Hypospadias 1 degree, glandular,coronal Y Hypospadias 2 degree, penile, subcoronal Y Hypospadias 3 degree, perineal, scrotal, penile scrotal

752.62 N Y Anaspadias Y Epispadias Y Ventral meatus

752.63 Y Y Congenital , with 1 degree, coronal hypospadias (glandular) Y Congenital chordee, with 2 degree, penile hypospadias (subcoronal) Y Congenital chordee, with 3 degree, penile scrotal, penrineal Y Congenital chordee, with hypospadias, nos Y Congenital chordee, without hypospadias

752.64 N Y Hypoplasia of penis Y Small penis, hypoplastic penis, or

752.7 Y Y Ambiguous genitalia Y Gynandrism Y Indeterminate sex, nos Y Ovotestis Y Pseudohermaphrodite, nos Y , female Y Pseudohermaphroditism, male Y Pure gonadal dysgenesis Y 752.8 Y Y Absence of prostate Y Absence of spermatic cord Y Absence of testis Y Absence of Y Absence or aplasia of penis Y Absent or hooded Y Anorchism Y Aplasia (congenital) of prostate Y Aplasia (congenital) of round ligament Y Aplasia (congenital) of testicle Y Aplasia or hypoplasia of scrotum (birthweight greater than 2500 grams) Y Aplasia or hypoplasia of testis Y Appendix testis cyst Y Atresia of ejaculatory duct Y Atresia of vas deferens Y Bifid scrotum Y Curvature of penis (lateral) New York State Congenital Malformation Registry 35 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______752.8 Y Y Cysts of embryonic remnants Y Fusion of testes Y Hydatid of morgagni cyst Y Incomplete foreskin Y Monorchidism, nos Y Other anomaly of penis Y Other anomaly of testis and scrotum Y Other anomaly of vas deferens and prostate Y Other specified anomaly of genital organs Y Paraspadias Y Y Webbed penis Y Wolffian duct cyst

752.9 Y Y Deformity of genital organs, nos Y Unspecified anomaly of genital organs Y Unspecified anomaly of uterus

753.0 Y Y Bilateral absence, agenesis of kidneys Y Congenital atrophy of , nos Y Hypoplasia of kidneys, bilateral Y Hypoplasia of kidneys, unilateral Y Infantile atrophy of kidney, nos Y Potters syndrome Y Renal agenesis, nos Y Unilateral absence, agenesis of kidneys

753.10 Y Y Cystic kidney disease, nos Y Cystic kidneys, nos

753.11 N Y Renal cyst (single)

753.12 Y Y Polycystic kidneys, nos 753.13 N Y Polycystic kidneys, adult type Y Polycystic kidneys, autosomal dominant 753.14 N Y Polycystic kidneys, autosomal recessive Y Polycystic kidneys, infantile type 753.15 Y Y Dysplastic kidney, bilateral Y Renal dysplasia nos; dysplastic kidney nos Y Renal dysplasia, bilateral Y Unilateral dysplasia of kidneys

753.16 N Y Medullary cystic disease, adult type Y Medullary cystic disease, juvenile type

753.17 N Y Medullary sponge kidney Y Sponge kidney New York State Congenital Malformation Registry 36 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______753.19 Y Y Fibrocystic kidney Y Multicystic kidney Y Multicystic renal dysplasia Y Other specified cystic disease

753.20 Y Y Unspecified obstructive defects of renal and ureter 753.21 Y Y Ureteropelvic junction obstruction/stenosis, bilateral Y Ureteropelvic junction obstruction/stenosis, left Y Ureteropelvic junction obstruction/stenosis, nos Y Ureteropelvic junction obstruction/stenosis, right Y Ureteropelvic junction obstruction/stenosis, unilateral 753.22 Y Y Congenital hydroureter, bilateral Y Congenital hydroureter, left Y Congenital hydroureter, nos Y Congenital hydroureter, right Y Congenital hydroureter, unilateral Y Megaloureter, bilateral Y Megaloureter, left Y Megaloureter, nos Y Megaloureter, right Y Megaloureter, unilateral Y Ureterovesical junction obstruction/stenosis, bilateral Y Ureterovesical junction obstruction/stenosis, left Y Ureterovesical junction obstruction/stenosis, nos Y Ureterovesical junction obstruction/stenosis, right Y Ureterovesical junction obstruction/stenosis, unilateral

753.23 N Y Congenital ureterocele Y Ectopic ureterocele

753.29 Y Y Atresia, stricture, or stenosis of ureter, bilateral Y Atresia, stricture, or stenosis of ureter, nos Y Atresia, stricture, or stenosis of ureter, right Y Atresia, stricture, or stenosis of ureter, unilateral Y Atresia, structure, or stenosis of ureter, left Y Congenital hydronephrosis, bilateral Y Congenital hydronephrosis, left only Y Congenital hydronephrosis, nos Y Congenital hydronephrosis, right only Y Congenital hydronephrosis, unilateral Y Congenital occlusion of ureter, bilateral Y Congenital occlusion of ureter, left Y Congenital occlusion of ureter, nos Y Congenital occlusion of ureter, right Y Congenital occlusion of ureter, unilateral Y Hypoplastic ureter, bilateral Y Hypoplastic ureter, left Y Hypoplastic ureter, nos Y Hypoplastic ureter, right New York State Congenital Malformation Registry 37 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______753.29 Y Y Impervious ureter, bilateral Y Impervious ureter, left Y Impervious ureter, nos Y Impervious ureter, right Y Impervious ureter, unilateral Y Other obstructive defects renal pelvis and ureter Y Single transverse palmar crease Y Unspecified obstructive defects of renal pelvis and ureter Y Unspecified obstructive defects renal pelvis and ureter Y Ureteral valves, bilateral Y Ureteral valves, left Y Ureteral valves, nos Y Ureteral valves, right Y Ureteral valves, unilateral

753.3 Y Y Accessory kidney Y Congenital calculus of kidney Y Congenital displaced kidney Y Congenital renal calculi Y Discoid kidney Y Double kidney and pelvis, pyelon duplex Y Ectopic kidney Y Enlarged, hyperplastic or giant kidney Y Lobulated, fused, or horseshoe kidney Y Malrotation of kidney Y Other specified anomalies of kidney Y Trifid kidney (pelvis) Y Triple kidney and pelvis, pyelon triplex Y Unspecified anomaly of kidney

753.4 Y Y Absence of ureter Y Accessory ureter Y Anomalous implantation of ureter Y Deviation of ureter Y Displaced ureteric orifice Y Double ureter, duplex collecting system Y Duplication of collecting systems Y Ectopic ureter Y Other specified anomalies of ureter Y Unspecified anomaly of ureter Y Ureteral reflux Y Variations of vesicoureteral reflux 753.5 N Y Ectopia vesicae Y Ectopic bladder Y Exstrophy of Y Extroversion of bladder

753.6 Y Y Congenital obstruction of bladder neck Y Congenital obstruction of Y Congenital posterior urethral valves New York State Congenital Malformation Registry 38 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______753.6 Y Y Congenital stricture of urinary meatus Y Congenital stricture of vesicourethral orifice Y Imperforate urinary meatus Y Impervious urethra Y Obstruction, atresia or stenosis of anterior urethra Y Obstruction, atresia or stenosis of urinary meatus Y Other atresia and stenosis of urethra Y Other atresia or stenosis of bladder neck Y Posterior urethral obstruction Y Unspecified atresia and stenosis of bladder neck Y Unspecified atresia and stenosis of urethra Y Urethral valve formation, anterior 753.7 N Y Cyst of urachus Y Fistula of urachus Y Other anomaly of urachus Y Patent urachus Y Persistent umbilical sinus Y Unspecified anomaly of urachus

753.8 Y Y Absence of bladder Y Absence of urethra Y Accessory bladder Y Accessory urethra Y Congenital digestive urinary tract fistulae Y Congenital diverticulum or hernia of bladder Y Congenital prolapse of bladder (mucosa) Y Congenital prolapse of urethra Y Congenital urethrorectal fistula Y Double urethra or urinary meatus Y Ectopic urethra or urethral orifice Y Other specified anomaly of bladder and urethra Y Rectovesical fistula Y Urethral fistula, nos

753.9 Y Y Unspecified anomaly of bladder Y Unspecified anomaly of urethra Y Unspecified anomaly of , nos

754.0 Y Y Compression (Potter's) facies Y Deformity of skull, nos Y Y N Asymmetric head N Asymmetry of face N Deformity of face, nos N Deformity of jaw, nos N Facial asymmetry N Head asymmetry N Large or small fontanelles N Third fontanel New York State Congenital Malformation Registry 39 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______754.1 N Y Absent or hypoplastic sternocleidomastoid muscle Y Anomalies of sternocleidomastoid muscle Y Congenital sternomastoid torticollis Y Congenital wryneck Y of sternocleidomastoid muscle Y Sternomastoid tumor 754.2 Y Y Congenital postural curvature of spine, nos Y Congenital postural Y Congenital postural

754.30 N Y Congenital dislocation of , left only Y Congenital dislocation of hip, nos Y Congenital dislocation of hip, right only Y Congenital dislocation of hip, unilateral 754.31 N Y Congenital dislocation of hip, bilateral

754.32 N Y Congenital flexion deformity, hip or thigh, left Y Congenital flexion deformity, hip or thigh, right Y Congenital flexion deformity, hip or thigh, unilateral Y Congenital subluxation of hip, unilateral Y Congenital subluxation of hip, unilateral, left Y Congenital subluxation of hip, unilateral, right Y Hip click Y Hip click, unilateral Y Hip click, unilateral, left Y Hip click, unilateral, right Y Hip subluxation Y Predislocation status of hip at birth, unilateral Y Predislocation status of hip at birth, unilateral, right Y Predislocation status of hip at birth,unilateral, left Y Preluxation of hip, congenital, left Y Preluxation of hip, congenital, right Y Preluxation of hip, congenital, unilateral Y Unstable hip, unilateral Y Unstable hip, unilateral, left Y Unstable hip, unilateral, right

754.33 N Y Congenital subluxation of hip, bilateral Y Hip click, bilateral Y Predislocation status of hip at birth, bilateral Y Preluxation of hip, bilateral Y Unstable hip, bilateral

754.35 Y Y Congenital dislocation left hip, with subluxation other hip Y Congenital dislocation one hip, with subluxation other hip Y Congenital dislocation right hip, with subluxation other hip

754.40 N Y New York State Congenital Malformation Registry 40 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______754.41 N Y Dislocation of , congenital

754.42 N Y Bowing, femur 754.43 N Y Bowing, tibia and/or fibula

754.44 Y Y Bow legs, nos

754.50 N Y Pes varus Y Talipes varus (inturned foot) (adductus) Y Unspecified varus deformities of feet

754.51 N Y Talipes equinovarus, bilateral Y Talipes equinovarus, left Y Talipes equinovarus, nos Y Talipes equinovarus, right Y Talipes equinovarus, unilateral

754.52 N Y Metatarsus primus varus

754.53 N Y Metatarsus varus or metatarsus adductus 754.59 Y Y Complex varus deformities Y Other specified varus deformities of foot Y Talipes calcaneovarus

754.60 Y Y Talipes valgus Y Unspecified valgus deformities of foot

754.61 Y Y Congenital pes planus Y Flat foot, congenital Y Pes valgus N (m) Congenital 754.62 N Y Talipes calcaneovalgus, bilateral Y Talipes calcaneovalgus, left Y Talipes calcaneovalgus, nos Y Talipes calcaneovalgus, right Y Talipes calcaneovalgus, unilateral 754.69 Y Y Other specified valgus deformities of foot Y Talipes equinovalgus Y Talipes planovalgus

754.70 Y Y Bilateral club foot Y , nos Y Congenital deformities of foot, nos Y Dorsiflexion of foot (fixed only) Y Foot abducted and flexed vertical talus Y Talipes, nos New York State Congenital Malformation Registry 41 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______754.71 N Y Cavus foot Y Claw foot or lobster claw foot Y Y Talipes cavus

754.79 Y Y Asymmetric talipes Y Other specified deformities of foot Y Short achilles tendon Y Talipes calcaneus Y Talipes equinus Y Vertical talus

754.81 N Y Funnel chest ()

754.82 N Y Pigeon chest () 754.89 N Y Anthrogryposis Y multiplex congenita Y Club or fingers Y Deformed chest, barrel chest Y Dislocation of Y Distal arthrogryposis syndrome Y Flexion of individual joints Y Generalized flexion contractures of lower limb joints Y Other specified nonteratogenic anomaly of chest Y Shield chest Y Spade-like hand 755.00 Y Y Accessory digits, nos (hand/foot not specified) Y , unspecified digits Y Supernumerary digits Y postaxial polydactyly, nos

755.01 Y DO NOT REPORT IF Y Acces.digits hand, nos Y Accessory fingers (postaxial polydactyly, type A) Y Accessory thumbs (preaxial polydactyly) Y Polydactyly of fingers

755.02 Y DO NOT REPORT IF SKIN TAG Y Accessory big toe (preaxial) Y Accessory digits foot, nos Y Accessory toes Y Accessory toes (postaxial) Y Polydactyly of toes 755.10 Y Y Symphalangy Y (2-3 toes) Y Syndactyly of multiple and unspecified sites Y Unspecified syndactyly (see below for specified site) Y Unspecified syndactyly thumb and/or fingers, bilateral New York State Congenital Malformation Registry 42 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______755.10 Y Y Unspecified syndactyly thumb and/or fingers, nos Y Unspecified syndactyly thumb and/or fingers, unilateral Y Unspecified syndactyly toes, bilateral Y Unspecified syndactyly toes, nos Y Unspecified syndactyly toes, unilateral Y Unspecified syndactyly, digits not known 755.12 Y Y Fused fingers Y Syndactyly of fingers with fusion of bone 755.14 Y Y Fused toes Y Syndactyly of toes with fusion of bone 755.20 Y Y nos of Y of upper limb, nos Y Hypoplasia of Y Hypoplasia of upper limb Y Shortening of , congenital Y Unspecified reduction defect of upper limb

755.21 Y Y Absence of hand Y of upper limb Y Complete absence of upper limb Y of upper limb, nos Y Hypoplasia of Y Total absence of and hand Y Transverse deficiency of upper limb Y Transverse hemimelia of upper limb Y total absence of fingers

755.22 Y Y Other specified upper limb reduction defects Y of upper limb Y Postaxial (longitudinal) reduction deficiency of upper limb Y Preaxial (longitudinal) reduction deficiency of upper limb Y Rudimentary arm

755.23 Y Y Absence of upper arm and forearm with hand present Y Phocomelia, complete, of upper limb

755.24 Y Y Congenital absence of humerus with forearm present Y Longitudinal deficiency, humeral, complete or partial Y Proximal phocomelia of upper limb 755.25 Y Y Congenital absence of and Y Distal phocomelia of upper limb Y Longitudinal deficiency, radioulnar, complete or partial Y Total absence of forearm only (radius and ulna)

755.26 Y Y Absence of radius Y Agenesis of radius Y Congital absence of radius with or without absence of some distal elements New York State Congenital Malformation Registry 43 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______755.26 Y Y Longitudinal deficiency, radial, complete or partial

755.27 Y Y Absence of ulna Y Agenesis of ulna Y Congenital absence ulna, with or without absense of some distal elements Y Longitudinal deficiency ulnar, complete or partial 755.28 Y Y Longitudinal deficiency, carpals or metacarpals

755.29 Y Y Absence of finger, congenital Y Absence of fingers (postaxial) Y Absence of preaxial fingers Y Absence of thumb Y Aphalangia of upper limb, terminal, complete or partial Y Hypoplasia of fingers Y Longitudinal deficiency, phalanges, complete or partial

755.30 Y Y Ectromelia of lower limb, nos Y Hemimelia of lower limb, nos Y Hypoplasia of leg Y Hypoplasia of lower limb Y Shortening of leg, congenital Y Unspecified reduction defect of lower limb

755.31 Y Y Absence of foot or toes Y Absence of lower leg and foot Y Amelia of lower limb Y Complete absence of lower limb Y Congenital absence of leg, including foot and toes Y Congenital amputation of lower limb, nos Y Hypoplasia of feet Y Transverse hemimelia of lower limb

755.32 Y Y Longitudinal reduction defect of leg, nos Y Other specified reduction defect of lower limb Y Phocomelia of lower limb 755.33 Y Y Absent thigh and lower leg with foot present Y Longitudinal deficiency involving femur, tibia, & fibula Y Phocomelia, complete, of lower limb

755.34 Y Y Absent upper leg or thigh only Y Congenital absence of femur with absence of distal elements Y Congenital absence of femur, without absence of distal elements Y Femoral hypoplasia syndrome Y Longitudinal deficiency, femoral, complete or partial Y Proximal phocomelia of lower limb

755.35 Y Y Absence of lower leg only Y Congenital absence of tibia and fibula with absence of distal elements Y Distal phocomelia of lower limb New York State Congenital Malformation Registry 44 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______755.35 Y Y Longitudinal deficiency, tibiofibular, complete or partial

755.36 Y Y Absence of tibia, preaxial longitudinal Y Agenesis of tibia Y Congenital absence tibia with absence of some distal element Y Longitudinal deficiency, tibia, complete or partial 755.37 Y Y Absence of fibula, postaxial longitudinal Y Agenesis of fibula Y Congenital absence of fibula, with absence of some distal elements Y Longitudinal deficiency, fibula, complete or partial

755.38 Y Y Longitudinal deficiency, tarsals or metatarsals, complete

755.39 Y Y Absence of toe, congenital Y Aphalangia of lower limb, terminal, complete or partial Y Hypoplasia of toes Y Longitudinal deficiency, phalanges, complete or partial 755.4 Y Y Absence of limb, nos Y Absence, congenital (complete or partial) of limb nos Y Absent digits, nos Y Amelia, nos Y Amputation of unspecified limb Y Ectromelia of unspecified limb Y Hemimelia of unspecified limb Y Longitudinal reduction defect, nos Y Other specified reduction defect of unspecified limb Y Phocomelia of unspecified limb Y Phocomelia, nos Y Unspecified reduction defect of unspecified limb

755.50 Y Y Anomalies of forearm, nos Y Other anomaly of whole arm Y Unspecified anomalies of upper limb

755.51 Y Y Congenital deformity of (specify)

755.52 N Y Congenital elevation of scapula Y Sprengel's deformity

755.53 N Y Radioulnar 755.54 N Y Madelung's deformity

755.55 Y Y Acrocephalosyndactyly type III Y Acrocephalosyndactyly types I or II Y Acrocephalosyndactyly, nos Y Y Other specified acrocephalosyndactylies Y Saethre-Chotzen syndrome, type V Pfeiffer New York State Congenital Malformation Registry 45 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______755.55 Y Y Type III Saethre-Chotzen Syndrome

755.56 N Y Accessory carpal bones 755.58 N Y Cleft hand, congenital Y Lobster claw hand 755.59 Y Y Anomalies of elbow and upper arm Y Anomalies of hand Y Anomalies of Y Anomalies of wrist Y Bifid thumb Y Cleidocranial Y , congenital Y , congenital Y Hyperextensibility of upper limb Y Other specified anomaly of upper limb Y Other specified deformity of hands Y Radioulnar dysostosis N (m) Anomalies of fingers N (m) N (m) Camptodactyly N (m) N (m) Incurving fingers N (m) Long fingers N (m) Long fingers and toes N (m) Overlapping fingers N (m) Tapered fingers N (m) Triphalangeal thumb

755.60 Y Y Deformity of leg, nos Y Unspecified anomaly of lower limb

755.61 N Y

755.62 N Y 755.63 Y Y Bilateral Y Congenital anteversion of femur (neck) Y Hip dysplasia, nos Y Other congenital deformity of hip (joint) Y Unilateral hip dysplasia 755.64 Y Y Congenital absence of patella Y Congenital deformity of knee joint Y Congenital (knock-knee) Y Congenital (bowleg) Y Rudimentary patella

755.66 Y Y Congenital hallux valgus Y Other specified deformities of toes New York State Congenital Malformation Registry 46 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______755.66 Y N (m) Congenital N (m) Congenital N (m) Gap between toes (1-2) N (m) Long toes N (m) Other anomalies of toes N (m) Overlapping toes N (m) Recessed toes (4,5) N (m) Short or broad great toe N (m) Widespaced first and second toes 755.67 Y Y Anomalies of foot Y Astragaloscaphoid synostosis Y Calcaneonavicular bar Y Coalition of calcaneus Y Plantar furrow Y Prominent heel Y Talonavicular synostosis Y Tarsal coalitions 755.69 Y Y Anomalies of ankle Y Anomalies of pelvis Y Anomalies of upper leg Y Congenital deformity of ankle (joint) Y Congenital deformity of sacroiliac (joint) Y Dorsiflexion of foot Y Fusion of sacroiliac joint Y Other specified anomaly of lower limb N (m) Anomalies of lower leg N (m) Congenital angulation of tibia N (m) Tibial torsion 755.8 Y Y Larsen's syndrome Y Other specified anomaly of unspecified limb 755.9 Y Y Congenital anomaly of unspecified limb, nos Y Congenital deformity of unspecified limb, nos (try not to use) 756.0 Y Y Absence of skull bones Y Acrocephaly (specify if due to ) Y Basilar craniosynostosis Y Bony occipital spur Y Closed skull sutures, nos Y Congenital deformity of forehead Y Coronal craniosynostosis Y Craniofacial dysostosis Y Craniosynostosis, nos Y Crouzon's disease Y Flat occiput Y Franceschetti syndrome Y Frontal bossing Y New York State Congenital Malformation Registry 47 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______756.0 Y Y Hallermann-Streiff syndrome Y Y Y Hypotelorism Y Imperfect fusion of skull Y Kleeblattschadel Y Lambdoidal craniosynostosis Y Localized skull defects Y Mandibulofacial dysostosis Y Metopic craniosynostosis Y Midfacial hypoplasia Y Minor hypotelorism Y Oculoauriculovertebral dysplasia Y Oculomandibulofacial syndrome Y Other craniofacial syndromes Y Other specified skull and face bone anomaly Y Other types of craniosynostosis Y (specify if due to craniosynostosis) Y Pierre-Robin syndrome Y Y Premature closure of crainial sutures Y Prominent occiput Y Sagittal craniosynostosis Y (specify if due to craniosynostosis) Y Tower skull (specify if due to craniosynostosis) Y Treacher-Collins syndrome Y , other head deformation without synostosis Y Unspecified skull and face bone anomaly Y Wide set eyes

756.10 Y Y Unspecified anomaly of spine

756.11 N Y Prespondylolisthesis, lumbosacral Y Spondylolysis, lumbosacral

756.12 N Y Congenital 756.13 Y Y Agenesis of cervical vertebrae Y Agenesis of lumbar vertebrae Y Agenesis of Y Agenesis of thoracic vertebrae

756.14 Y Y Hemivertebrae, cervical vertebrae Y Hemivertebrae, lumbar vertebrae Y Hemivertebrae, nos Y Hemivertebrae, thoracic vertebrae

756.15 N Y Fusion of spine (), congenital

756.16 Y Y Klippel-Feil syndrome Y Wildervanck syndrome New York State Congenital Malformation Registry 48 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______756.17 N Y Spina bifida occulta

756.19 Y Y Anomalies of cervical vertebrae Y Anomalies of lumbar vertebrae Y Anomalies of thoracic vertebrae Y Kyphoscoliosis Y Y Other specified vertebral anomaly Y Platyspondylia Y Sacral mass, nos Y Sacrococcygeal anomaly Y Supernumerary vertebra 756.3 Y Y Absence of Y Absence of Y Anomalies of thoracic cage, unspecified Y Bifid sternum Y Congenital fissure of sternum Y Congenital fusion of ribs Y Double ossification center in the manubrium Y Extra ribs Y Misshapen ribs Y Misshapen sternum Y Other anomaly of ribs Y Other anomaly of sternum Y Short sternum

756.4 Y Y Achondroplasia Y Achondroplastic dwarfism Y Asphyxiating thoracic dystrophy Y Chondrodysplasia Y Chondrodysplasia with hemangioma Y Chondrodystrophia (fetalis) Y Diastrophic dwarfism Y Dyschondroplasia Y Exostosis Y Homozygous achondroplasia Y Jeune syndrome Y Kast syndrome Y Maffucci syndrome Y Mckusick's metaphyseal chondrodysplasia Y Metaphyseal dysostosis Y Metatrophic dwarfism Y Ollier syndrome, enchondromatosis Y Other specified chondrodystrophies Y Spondyloepiphyseal dysplasia Y Thanatophoric dwarfism Y Thoracic pelvic phalangeal dysplasia Y Unspecified chondrodystrophy

756.50 Y Y Unspecified osteodystrophies New York State Congenital Malformation Registry 49 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______756.51 Y Y Fragilitas ossium Y Osteogenesis imperfecta Y Osteopsathyrosis 756.52 Y Y Albers-Schonberg syndrome Y Marble bones Y Osteopetrosis

756.53 Y Y Osteopoikilosis 756.54 Y Y Polyostotic fibrous dysplasia

756.55 Y Y Chondroectodermal dysplasia Y Ellis-van Creveld syndrome

756.56 Y Y Multiple epiphyseal dysplasia

756.59 Y Y Albright-McCune-Sternberg syndrome Y Caffey syndrome Y Camurati-Englemann disease Y Chondrodysplasia punctata Y Conradi syndrome Y Engelmann syndrome Y Infantile cortical Y Melnick-needles Syndrome Y fibrosa disseminata Y Other specified osteodystrophies Y Progressive diaphyseal dysplasia

756.6 Y Y Absence of diaphragm Y Congenital diaphragmatic hernia Y Diaphragmatic hernia (Bochdalek) Y Diaphragmatic hernia (Morgagni) Y Eventration of diaphragm Y Hemidiaphragm Y Other specified anomaly of diaphragm N Unspecified anomaly of diaphragm

756.70 N Y , Exomphalos 756.71 N Y Gastroschisis

756.72 N Y Eagle-Barrett syndrome Y Prune belly syndrome

756.79 Y Y Other anomalies of abdominal wall (specify) N Diastasis recti

756.81 Y Y Absent pectoralis major Y Absent tendon Y Other absent or hypoplastic muscle New York State Congenital Malformation Registry 50 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______756.81 Y Y or anomaly

756.82 Y Y Accessory muscle 756.83 N Y Cutis laxa hyperelastica Y Ehlers-Danlos syndrome 756.89 Y Y Amyotrophia congenita Y Congenital shortening of tendon Y Nail-patella syndrome Y Other specified anomaly muscle, tendon, fascia, connective tissue

756.9 Y Y Other anomaly of musculoskeletal system N Unspecified anomaly of bone N Unspecified anomaly of cartilage N Unspecified anomaly of connective tissue N Unspecified anomaly of muscle N Unspecified anomaly of musculoskeletal system N Unspecified anomaly of tendon

757.0 N Y Congenital Y Hereditary edema of legs Y Hereditary trophedema Y Milroy's disease 757.1 Y Y Bullous type Y Collodion baby Y Congenital ichthyosis Y Harlequin fetus Y Ichthyosis vulgaris Y Ichthysiform erythroderma Y Karotosis follicularis Y Lameller ichtyosis neonatorum Y Other ichtyosis congenital Y Sjogren-Larsson syndrome Y Unspecified ichtyosis congenital Y X-linked ichthyosis

757.31 Y Y Ectodermal dysplasia Y Other specified ectodermal dysplasias Y X-linked type ectodermal dysplasia

757.33 Y Y Congenital poikiloderma Y Incontinentia pigmenti Y Neuro-cutaneous syndrome Y Urticaria pigmentosa Y Xeroderma pigmentosum

757.39 Y Y Absence of skin Y Cutis aplasia Y New York State Congenital Malformation Registry 51 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______757.39 Y Y Goltz syndrome Y Specified syndromes, not elsewhere classified, involving skin anomaly N (m) Accessory skin tags N (m) Congenital scar N (m) Cutis marmorata N (m) Hypoplastic dermal patterns N (m) Keratoderma (congenital) N (m) Other specified anomaly of skin

757.6 Y Y Absent breast with absent nipple Y Absent nipple Y Hypoplastic breast with hypoplastic nipple N (m) Other specified anomaly of breast N (m) Widely spaced nipples N Small nipple (hypoplastic) 758.0 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y , karyotype 21 Y Down syndrome, nos Y Mongolism Y Mosaic Down syndrome Y Translocation trisomy 21, t(13;21), t(12;21), t(15;21) Y Translocation trisomy duplication of a 21

758.1 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Mosaic trisomy 13 Y , karyotype trisomy 13 Y Patau syndrome, nos Y Translocation trisomy 13, t(13;14) Y Translocation trisomy duplication of a 13 758.2 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y phenotype, normal karyotype Y Edwards syndrome, karyotype trisomy 18 Y Edwards syndrome, nos Y Mosaic trisomy 18 Y Translocation trisomy, duplication of an 18

758.3 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Antimongolism syndrome Y Any autosomal monosomy (whole chromosome), NOS Y Any autosomal monosomy mosaicism except chromosome 21 Y Autosomal deletion, NOS Y Cri-du-chat syndrome Y Deletion of chromosome 1, DEL(1) Y Deletion of chromosome 14 Y Deletion of Y Deletion of chromosome 16 Y Deletion of Y Deletion of , DEL(2) Y Deletion of chromosome 20 New York State Congenital Malformation Registry 52 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______758.3 Y Y Deletion of chromosome 22 Y Deletion of Y Deletion of chromosome 6 Y Deletion of chromosome 7 Y Deletion of Y Deletion of chromosome 9 Y Deletion of long arm of 13 Y Deletion of long arm of 17 Y Deletion of long arm of 18 Y Deletion of short arm of 17 Y Deletion of short arm of 18 Y Karyotype deletion of 4 (long arm(q)) Y Karyotype deletion of 4 (short arm(p)) Y Karyotype deletion of 5 (long arm(q)) Y Karyotype deletion of 5 (short arm(p)) Y Karyotype partial or total deletion of 21 Y Monosomy 21 mosaicism Y Other loss of autosomal material Y Ring chromosome Y Unspecified autosomal deletion syndromes Y Wolff-Hirschorn syndrome 758.5 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Accessory autosomes nec Y Autosomal fragile site [fra (_)] Y Derivative chromosome, NOS [not X or Y; der (_)] Y Double minute chromosomes (+dmin) Y Insertion, autosome [ins (_)] Y Inversion, autosome [inv (_)] Y Isochromosome, autosome [i (_)] Y Marker autosome Y Other specified anomaly of autosomes Y Other total trisomy syndromes Y Other translocations Y Partial trisomy syndromes Y Polyploidy Y Triploidy Y Trisomy 1 Y Trisomy 10 Y Trisomy 11 Y Trisomy 12 Y Trisomy 14 Y Trisomy 15 Y Trisomy 16 Y Trisomy 17 Y Trisomy 19 Y Trisomy 2 Y Trisomy 20 Y Trisomy 22 Y Trisomy 3 Y Trisomy 4 New York State Congenital Malformation Registry 53 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______758.5 Y Y Trisomy 5 Y Trisomy 6 Y Trisomy 7 Y Trisomy 8 Y Trisomy 9 Y Trisomy, nos Y Unspecified anomaly of autosomes Y Variable region, autosome [var (_)]

758.6 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Bonneville-Ullrich syndrome NOS Y Karyotype characterized by isochromosome Y Karyotype characterized by mosaic, including XO Y Karyotype characterized by partial X deletion Y Karyotype characterized by ring chromosome Y Other gonadal dysgenesis phenotype; XY female phenotype Y Ovarian dysgenesis Y Turner phenotype, normal karyotype Y variant, [45,X/46,X,i(Xq)] Y Turner syndrome variant, [45,X/46,XX] Y Turner syndrome variant, [45,X/46,XY] Y Turner syndrome variant, [46,X,del(Xp)] Y Turner syndrome variant, [46,X,i(Xq)] Y Turner syndrome variant, [46,X,r(X)] Y Turner syndrome variant, [46,Xdel(Xq)] Y Turner syndrome variant, other Y Turner syndrome, karyotype unspecified, nos Y Turner's phenotype, karyotype 45, X Y Turner's phenotype, variant karyotypes Y XO syndrome Y XX, male phenotype

758.7 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Klinefelter syndrome mosaic (46,XY/47,XXY) Y Klinefelter syndrome, nos Y Klinefelter's phenotype, karyotype 47, XXY Y Klinefelter's phenotype, other karyotype with additional X chromsomes Y XX Y XXXXY Y XXXY Y XXY syndrome Y XXYY 758.81 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Additional sex chromosome Y Female phenotype with more than three X chromosomes,e.g., 48XXXX Y Fragile X syndrome female carrier Y Fragile X syndrome male Y Mosaic XO/XX,45X/46XX Y Mosaic XO/XY, 45X/46XY Y Mosaic XY/XXY,46XY/47XXY New York State Congenital Malformation Registry 54 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______758.81 Y Y Mosaic XYY male Y Mosaic XYY male, 46, XX / 47,XYY Y Mosaic including XXXXY,49XXXXY Y Sex chromosome mosaicism Y Syndrome XXX Y Syndrome XXY Y Syndrome triple X Y Unspecified sex chromosome anomaly Y XXX female, 47XXX Y XYY, male, 47XYY

758.89 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Other chromosome anomaly (should review)

758.9 Y Y Other chromosome anomaly Y Unspecified anomaly of chromosome(s)

759.0 Y Y Aberrant Y Absence of spleen Y Accessory spleen Y isolated Y Asplenia syndrome Y Ectopic spleen Y Hypoplasia of spleen Y Ivemark syndrome Y Lobulation of spleen Y Misshapen spleen Y Other specified anomaly of spleen Y Unspecified anomaly of spleen (try not to use) N (m) Hyperplasia of spleen N (m)

759.1 Y Y Aberrant Y Absence of adrenal gland Y Accessory adrenal gland Y Ectopic adrenal gland Y Hypoplasia of adrenal gland Y Other specified anomaly of adrenal gland Y Unspecified anomaly of adrenal gland (try not to use) 759.2 Y Y Absent parathyroid gland Y Absent Y Accessory thyroid gland Y Other specified anomaly of endocrine gland Y Parathyroid gland anomaly Y Persistent thyroglossal or thyrolingual duct Y Pituitary gland anomaly Y Thymus anomaly Y Thyroglossal cyst Y Thyroglossal duct anomaly Y Thyroid gland anomaly New York State Congenital Malformation Registry 55 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______759.2 Y Y Unspecified anomaly of endocrine gland (try not to use)

759.3 Y Y Dextrocardia with complete situs inversus Y Kartagener syndrome (triad) Y Situs inversus abdominis Y Situs inversus thoracis Y Situs inversus with levocardia Y Situs transversus abdominalis Y Situs transversus thoracis Y Transposition of viscera abdominal Y Transposition of viscera thoracic Y Unspecified situs inversus 759.4 Y Y Buttock joined twins Y Craniopagus Y Dicephalus Y Double monster Y Head joined twins Y Other specified conjoined twins Y Pygopagus Y Thoracopagus Y joined twins Y Two heads Y Unspecified conjoined twins Y Xiphoid and pelvis joined twins Y Xiphopagus

759.5 N Y Bourneville's disease Y Epiloia Y 759.6 Y Y Encephalocutaneous angiomatosis Y Kalischer's disease Y Other specified hamartomas Y Peutz-Jegher syndrome Y Sturge-Weber-Dimitri syndrome Y Unspecified hamartomas Y Von Hippel-Lindau syndrome

759.7 Y Y Monster, not otherwise specified

759.81 N Y Prader-Willi syndrome 759.82 N Y Acrochondrohypoplasia Y 759.83 N Y Fragile X syndrome, female carrier (may be affected) 46,X,fra(X)(q27) Y fragile x male

759.89 Y PLEASE REPORT CYTOGENETIC DIAGNOSIS Y Congenital malformation syndromes affecting multiple systems, nec New York State Congenital Malformation Registry 56 List of Reportable Anomalies May 30, 2003

ICD Narrative Rpta Code Required ble Notes & Description ______759.89 Y Y FG Syndrome Y Klippel - Trenauray Synd. Y Monster (single), specified type Y Y Other specified anomalies and syndromes Y Russell Siver Syndrome Y Walker-warburg

759.9 Y Y Anomalies of umbilicus Y Congenital anomaly, nos Y Embryopathia, nec Y Low lying umbilicus Y Umbilical cord atrophy

760.71 Y IF ABNORMAL FACIAL FEATURES LIST, PLEASE RECORD EVEN IF MINOR Y Fetal alcohol effects Y Fetal alcohol facies Y Fetal alcohol syndrome Y Probable fetal alcohol syndrome

760.79 Y IF ABNORMAL FACIAL FEATURES LIST, PLEASE RECORD EVEN IF MINOR Y Fetal hydantoin (dilantin) syndrome Y Fetal warfarin syndrome N Other noxious influence 762.8 Y Y Amniotic band syndrome Y Amniotic bands (constricting bands) Y Steeter (simonart) bands

771.0 N Y Rubella, congenital 771.1 N Y infection, congenital

771.2 Y Y Congenital infection, other specified Y Encephalitis herpes Y Herpes simplex Y Listeriosis Y Meningoencephalitis herpes Y Torch infection, unspecified (try not to use) Y

771.3 N Y Tetanus neonatorum 773.0 Y DO NOT REPORT INCOMPATIBILITY ONLY Y Hemolytic disease due to rh isoimmunization 774.4 Y Y Fetal or neonatal due to hepatitis virus Y Hepatitis, neonatal, nos Y Hepatitis, neonatal, other