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

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New York State Congenital Malformation Registry 1 List of Reportable Anomalies May 30, 2003 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 nervous system neoplasm, 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, retina 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 Neurofibromatosis type I Y Von Recklinghausen's disease 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, neck 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 Diabetes 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 Galactosemia 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 Cystic fibrosis 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 bilirubin 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
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