1 Centre d'hématologie ‐ Hémopathies malignes rares 25‐04‐19 ORPHA OMIM ICD10 SNOMED Level 1 Level 2 Level 3 Level 4 Level 5 Level 6 Level 7 Level 8 Level 9 Level 10 Level 11 97992 Rare hematologic diseas 68347 Tumor of hematopoietic and lymphoid tissu 125 210900 Q99.8 Q87.1 4434006 Bloom syndrome 3226 614038 Q82.0 Deafness ‐ lymphedema ‐ 98292 Mastocytosis 2467 C96.2 397016004 Systemic mastocytosis 98848 D47.0 09‐70910003 Indolent systemic mastocytos 158775 Smouldering systemic mastocytosi 158778 Isolated bone marrow mastocytosi 98849 C96.2 0‐397357000 Systemic mastocytosis with an associated clonal hematologic non‐mast cell lineage dise 257643 Aggressive syLymphoadenopathic mastocytosis with eosinophil 98851 C94.3 2‐128924002 Mast cell leukemi 158796 Classic mast cell leukemi 158799 Aleukemic mast cell leukemia 66646 Q82.2 397012002 Cutaneous mastocytosi 79455 Q82.2 Cutaneous mastocytoma 79456 Q82.2 Diffuse cutaneous mastocytos 280785 Q82.2 Bullous diffuse cutaneous mastocytos 280794 Q82.2 Pseudoxanthomatous diffuse cutaneous mastocytos 79457 154800 Q82.2 78745000 Maculopapular cutaneous mastocytos 90389 Q82.2 8214000 Telangiectasia macularis eruptiva perstan 158766 Typical urticaria pigmentosa 158769 Plaque‐form urticaria pigmentosa 158772 Nodular urticaria pigmentosa 66661 C96.2 2‐188660004 Mast cell sarcoma 66662 C96.2 63175003 Extracutaneous mastocytoma 171895 Myeloid hemopathy 519 601626 C92.0 09‐91861009 Acute myeloid leukemia 86845 C92.0 128827005 Acute myeloid leukemia with multilineage dysplas 86846 Therapy related acute myeloid leukemia and myelodysplastic syndro 102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating age 102381 C92.0 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhib 164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiat 86851 C95.0 7‐397345009 Acute leukemia of ambiguous lineag 98835 C95.0 Acute undifferentiated leukemia 98836 C95.0 397346005 Bilineal acute leukemia 98837 C95.0 9‐278453007 Acute biphenotypic leukemia 98277 Acute myeloid leukemia with recurrent genetic anoma 520 612376 C92.4 28950004 Acute promyelocytic leukemia 98829 C92.7 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q 98831 C92.6 128829008 Acute myeloid leukemia with 11q23 abnormaliti 102724 C92.7 Acute myeloid leukemia with t(8;21)(q22;q22) translocatio 319480 C92.0 Acute myeloid leukemia with CEBPA somatic mutatio 167714 Unclassified acute myeloid leukem 517 C92.5 30962008 Acute myelomonocytic leukemia 514 C92.7 9‐413441006 Acute monoblastic leukemia 318 133180 C94.0 Acute erythroid leukemia 518 C94.2 Acute megakaryoblastic leukemia 99887 C94.2 Acute megakaryoblastic leukemia in Down syndrom 329469 C94.2 Acute megakaryoblastic leukemia without Down syndrom 86843 C94.5 03‐80570006 Acute panmyelosis with myelofibros 86849 C94.7 69077002 Acute basophilic leukemi 86850 C92.3 07‐35287006 Myeloid sarcoma 98832 C92.0 Minimally differentiated acute myeloblastic leukem 98833 C92.0 Acute myeloblastic leukemia without maturatio 98834 C92.0 Acute myeloblastic leukemia with maturatio 319465 C92.0 Inherited acute myeloid leukemia 52688 614286 D46 6‐188736006 Myelodysplastic syndrome 75564 D64.3 Acquired idiopathic sideroblastic anem 86836 D46.7 9‐415285009 Refractory cytopenia with multilineage dyspla 2 Centre d'hématologie ‐ Hémopathies malignes rares 25‐04‐19 ORPHA OMIM ICD10 SNOMED Level 1 Level 2 Level 3 Level 4 Level 5 Level 6 Level 7 Level 8 Level 9 Level 10 Level 11 98826 D46.7 8‐128845005 Refractory anemia 98827 D46.7 Unclassified myelodysplastic syndrom 101096 D46.7 89112009 Aregenerative anemia 86839 D46.2 2‐398623004 Refractory anemia with excess blas 100019 D46.2 9‐415283002 Refractory anemia with excess blasts‐ 100020 D46.2 1‐415284008 Refractory anemia with excess blasts‐2 86841 153550 D46.7 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnorma 168960 D46.3 5‐128848007 Refractory anemia with excess blasts in transformatio 98274 Myeloproliferative neoplasm 3318 1977‐614521 D47.3 9‐109994006 Essential thrombocythemia 521 608232 C92.1 05‐92818009 Chronic myeloid leukemia 824 254450 D47.4 Myelofibrosis with myeloid metaplas 729 263300 D45 5‐128841001 Polycythemia vera 86829 C92.1 7‐188734009 Chronic neutrophilic leukemi 86830 D47.1 Unclassified chronic myeloproliferative diseas 168940 D47.5 3‐413836008 Chronic eosinophilic leukemi 168956 D47.5 128835008 Hypereosinophilic syndrom 3260 607685 D47.5 4‐423294001 Idiopathic hypereosinophilic syndrom 314950 D47.5 Primary hypereosinophilic syndrom 629932 Secondary hyLymphoid hypereosinophilic syndrom 98275 Myelodysplastic/myeloproliferative disea 86834 607785 C93.3 1‐445227008 Juvenile myelomonocytic leukemia 98823 C93.1 6‐128831004 Chronic myelomonocytic leukemia 98824 C92.2 6‐277589003 Atypical chronic myeloid leukemia 98825 Unclassified myelodysplastic/myeloproliferative disea 168943 Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or F 168947 Myeloid neoplasm associated with PDGFRA rearrangeme 168950 Myeloid neoplasm associated with PDGFRB rearrangeme 168953 613523 Myeloid neoplasm associated with FGFR1 rearrangemen 171898 Lymphoid hemopathy 3261 3909‐614470 D72.8 Autoimmune lymphoproliferative syndrom 98282 Plasma cell tumo 2905 D47.7 01‐79268002 POEMS syndrome 29073 254500 C90.0 06‐55921005 Multiple myeloma 85443 254500 E85.8 23132008 AL amyloidosis 314701 2545001 E85.2 E85.3 Primary systemic amyloidosi 314709 E85.4 Primary localized amyloidos 86855 C90.2 3‐415112005 100021 C90.2 Primary plasmacytoma of the bone 100022 C90.2 Extramedullary soft tissue plasmacytoma 86861 D89.8 Non‐amyloid monoclonal immunoglobulin deposition dis 93556 D89.8 Heavy chain deposition diseas 93557 D89.8 Light and heavy chain deposition diseas 93558 D89.8 373604002 Light chain deposition diseas 86864 C88.2 C88.3 09‐68979007 100024 C88.2 61493004 Mu heavy‐chain disease 100025 C88.3 109982002 Alpha heavy‐chain disease 100026 C88.2 109984001 Gamma heavy‐chain disease 98287 Histiocytic and dendritic cell tumo 185184 Macrophage Histiocytic sarcoma 98289 Dendritic cell tumo 389 6048560 C96.5 C96.6 00‐65399007 Langerhans cell histiocytos 99870 246400 C96.0 7‐128812005 Letterer‐Siwe disease 99871 C96.6 129000002 Eosinophilic granulom 99872 C96.5 404160007 Hashimoto‐Pritzker syndrome 99873 C96.5 Hand‐Schüller‐Christian diseas 99874 C96.5 Adult pulmonary Langerhans cell histiocytos 86897 C96.4 128814006 Langerhans cell sarcoma 86900 267730 C96.4 7‐373168002 Interdigitating dendritic cell sarcoma 86902 C96.4 128816008 Follicular dendritic cell sarcom 3 Centre d'hématologie ‐ Hémopathies malignes rares 25‐04‐19 ORPHA OMIM ICD10 SNOMED Level 1 Level 2 Level 3 Level 4 Level 5 Level 6 Level 7 Level 8 Level 9 Level 10 Level 11 86903 C96.4 397355008 Dendritic cell sarcoma not otherwise specifie 98290 Immunodeficiency‐associated lymphoproliferative disea 70568 D47.9 254290004 Posttransplant lymphoproliferative diseas 86904 Methotrexate‐associated lymphoproliferative disorde 98291 Lymphoproliferative disease associated with primary immune disea 223735 Lymphoma 547 Non‐ 513 3067‐247640 C91.0 Acute lymphoblastic leukemi 99860 615545 C91.0 Precursor B‐cell acute lymphoblastic leukemi 99861 C91.0 Precursor T‐cell acute lymphoblastic leukemi 171915 B‐cell non‐Hodgkin lymphom 300842 Indolent B‐cell non‐Hodgkin lymphom 545 613024 C82 00‐55150002 33226 3600‐610430 C88.0 04‐35562000 Waldenström macroglobulinemi 58017 C91.4 01‐54087003 67038 2558‐612559 C91.1 00‐92814006 B‐cell chronic lymphocytic leukemia 300878 C91.4 Hairy cell leukemia variant 300912 Marginal zone lymphom 52417 C88.4 MALT lymphoma 86854 C83.0 Splenic marginal zone lymphoma 86867 C83.0 397349003 Nodal marginal zone B‐cell lymphom 300869 C83.0 Splenic diffuse red pulp lymphom 300846 Aggressive B‐cell non‐Hodgkin lymphom 543 113970 C83.7 06‐77381001 544 C83.3 05‐46732000 Diffuse large B‐cell lymphom 86869 C83.8 239940004 Lymphomatoid granulomatosis 98838 C83.3 5‐444910004 Primary mediastinal large B‐cell lymphom 98839 C83.3 399648005 Intravascular large B‐cell lymphoma 364043 C83.3 ALK‐positive large B‐cell lymphom 289661 C83.3 Epstein‐Barr virus‐positive diffuse large B‐cell lymphoma of the elde 300849 C83.3 Diffuse large B‐cell lymphoma of the central nervous syste 300857 C83.3 T‐cell/histiocyte rich large B cell lymphom 300888 C83.3 Diffuse large B‐cell lymphoma with chronic inflammatio 48686 C83.8 128800006 Primary effusion lymphoma 52416 C83.1 06‐74654000 86852 C91.3 7‐277619001 B‐cell prolymphocytic leukemia 99860 615545 C91.0 Precursor B‐cell acute lymphoblastic leukemi 289666 C83.3 Plasmablastic lymphoma 171918 T‐cell non‐Hodgkin lymphom 70568 D47.9 254290004 Posttransplant lymphoproliferative diseas 86870 C86.4 CD4+/CD56+ hematodermic neoplasm 86871 C91.3 6‐277567002 T‐cell prolymphocytic leukemia 86872 C91.5 01‐55081009 T‐cell large granular lymphocyte leukemia 86873 C91.7 128833001 Aggressive NK‐cell leukemia 86875 C91.5 05‐77430005 Adult T‐cell leukemia/lymphoma 86879 C84.4 414166008 Extranodal nasal NK/T cell lymphom 86880 C84.4 8‐277654008 Enteropathy‐associated T‐cell lymphoma 86882 C84.4 445406001 Hepatosplenic T‐cell lymphoma 98841 C83.3 277637000 Anaplastic large cell lymphom 300895 C83.3 ALK‐positive anaplastic large cell lymphom 300903 C83.3 ALK‐negative anaplastic large cell lymphoma 86886 C84.4 7009‐835009 Angioimmunoblastic T‐cell lymphom 364033 Systemic Epstein‐Barr virus‐positive T‐cell lymphoproliferative disease of childho 364039 Hydroa vacciniforme‐like lymphoma 98293 Hodgkin lymphoma 391 0021‐236000 C81 Hodgkin lymphoma, classica 98845 C81.0 5‐128799007 Lymphocyte‐rich classical Hodgkin lymphoma 98846 C81.3 Lymphocyte‐depleted classical Hodgkin lymphoma 98843 C81.1 classical Hodgkin lymphom 98844 C81.2 Mixed cellularity classical Hodgkin lymphom 4 Centre d'hématologie ‐ Hémopathies malignes rares 25‐04‐19 ORPHA OMIM ICD10 SNOMED Level 1 Level 2 Level 3 Level 4 Level 5 Level 6 Level 7 Level 8 Level 9 Level 10 Level 11 86893 C81.1 04‐70600005 Nodular lymphocyte predominant Hodgkin lymphom 168966 128798004 Composite lymphoma 279911 Primary organ‐specific lymphom 2420 C85.9 Primary pulmonary lymphoma 542 Primary cutaneous lymphom 171901 Primary cutaneous T‐cell lymphom 178548 Indolent primary cutaneous T‐cell lymphom 541 C86.6 0‐397352006 Primary cutaneous CD30+ T‐cell lymphoproliferative disea 98842 C86.6 3‐397353001 Lymphomatoid papulosi 300865 C86.6 Primary cutaneous anaplastic large cell lymphom 86884 C84.4 5‐404133000 Subcutaneous panniculitis‐like T‐cell lymphom 178522 C84.4 Primary cutaneous CD4+ small/medium‐sized pleomorphic T‐cell lymphom 178566 and varian 2584 254400 C84.0 Classical mycosis fungoide 33111 C84.0 277796003 Granulomatous slack skin 178512 C84.0 Folliculotropic mycosis fungoide 178517 C84.0 404120006 Localized pagetoid reticulos 178551 Aggressive primary cutaneous T‐cell lymphom 3162 C84.1 004‐4950009 Sézary syndrome 86875 C91.5 05‐77430005 Adult T‐cell leukemia/lymphoma 86879 C84.4 414166008 Extranodal nasal NK/T cell lymphom 86885 C84.4 009‐3172003 Primary cutaneous unspecified peripheral T‐cell lymphom 178528 C84.4 Primary cutaneous aggressive epidermotropic CD8+ T‐cell lymphom 178533 C84.4 Primary cutaneous gamma/delta‐positive T‐cell lymphom 178563 Primary cutaneous B‐cell lymphom 357098 Aggressive prPrimary cutaneous diffuse large B‐cell lymphoma, leg typ 178557 Indolent primary cutaneous B‐cell lymphom 178536 C83.0 4‐420028002 Primary cutaneous marginal zone B‐cell lymphom 178540 C82.6 Primary cutaneous follicle center lymphom 46135 Primary central nervous system lymphoma 97285 Thyroid lymphoma 279897 Primary oculocerebral lymphoma 279904 Primary intraocular lymphoma 314684 Primary bone lymphoma 319667 Primary lymphoma of the conjunctiva 268114 D72.8 RAS‐associated autoimmune lymphoproliferative diseas 300324 606445 Persistent polyclonal B‐cell lymphocytos 98427 Polycythemia 729 263300 D45 5‐128841001 Polycythemia vera 90042 133100 D75.0 Primary familial polycythemia 98428 Secondary polycythemia 238536 D75.1 Congenital secondary polycythemi 238557 263400 D75.1 Chuvash erythrocytosis 247378 D75.1 Autosomal recessive secondary polycythemia not associated with VHL ge 247511 1783‐609820 D75.1 Autosomal dominant secondary polycythemi 328588 Acquired sec Gaisböck syndrome

250908 Rare oncologic diseas 98057 Rare tumor 79386 Rare skin tumor or hamartom 542 Primary cutaneous lymphom 171901 Primary cutaneous T‐cell lymphom 541 C86.6 0‐397352006 Primary cutaneous CD30+ T‐cell lymphoproliferative disea 277390 Indolent primary cutaneo Lymphomatoid papulosi 300865 C86.6 Primary cutaneous anaplastic large cell lymphom 86884 C84.4 5‐404133000 Subcutaneous panniculitis‐like T‐cell lymphom 178522 C84.4 Primary cutaneous CD4+ small/medium‐sized pleomorphic T‐cell lymphom 178566 Mycosis fungoides and varian 2584 254400 C84.0 Classical mycosis fungoide 33111 C84.0 277796003 Granulomatous slack skin 5 Centre d'hématologie ‐ Hémopathies malignes rares 25‐04‐19 ORPHA OMIM ICD10 SNOMED Level 1 Level 2 Level 3 Level 4 Level 5 Level 6 Level 7 Level 8 Level 9 Level 10 Level 11 178512 C84.0 Folliculotropic mycosis fungoide 178517 C84.0 404120006 Localized pagetoid reticulos 181713 Aggressive p Sézary syndrome 86875 C91.5 05‐77430005 Adult T‐cell leukemia/lymphoma 86879 C84.4 414166008 Extranodal nasal NK/T cell lymphom 86885 C84.4 009‐3172003 Primary cutaneous unspecified peripheral T‐cell lymphom 178528 C84.4 Primary cutaneous aggressive epidermotropic CD8+ T‐cell lymphom 178533 C84.4 Primary cutaneous gamma/delta‐positive T‐cell lymphom 178563 Primary cutaneous B‐cell lymphom 357098 Aggressive prPrimary cutaneous diffuse large B‐cell lymphoma, leg typ 357093 Indolent primPrimary cutaneous marginal zone B‐cell lymphom 178540 C82.6 Primary cutaneous follicle center lymphom 289635 Rare virus induced tumo 102024 HHV‐8 related disorder 160 148000 D36.0 3‐238809002 Castleman diseas 93682 D36.0 Pediatric Castleman diseas 93685 D36.0 Localized Castleman diseas 93686 148000 D36.0 Multicentric Castleman diseas 33276 1480008 C46.9 C46.707‐49937004 Kaposi's sarcoma 48686 C83.8 128800006 Primary effusion lymphoma 289638 Epstein‐Barr Virus‐related tumo 289644 Epstein‐Barr virus‐associated malignant lymphoproliferative diso 364033 Systemic Epstein‐Barr virus‐positive T‐cell lymphoproliferative disease of childho 364039 Hydroa vacciniforme‐like lymphoma 543 113970 C83.7 06‐77381001 Burkitt lymphoma 46135 Primary central nervous system lymphoma 48686 C83.8 128800006 Primary effusion lymphoma 70568 D47.9 254290004 Posttransplant lymphoproliferative diseas 86869 C83.8 239940004 Lymphomatoid granulomatosis 86879 C84.4 414166008 Extranodal nasal NK/T cell lymphom 98293 Hodgkin lymphoma 391 0021‐236000 C81 Hodgkin lymphoma, classica 98845 C81.0 5‐128799007 Lymphocyte‐rich classical Hodgkin lymphoma 98846 C81.3 Lymphocyte‐depleted classical Hodgkin lymphoma 98843 C81.1 Nodular sclerosis classical Hodgkin lymphom 98844 C81.2 Mixed cellularity classical Hodgkin lymphom 86893 C81.1 04‐70600005 Nodular lymphocyte predominant Hodgkin lymphom 289661 C83.3 Epstein‐Barr virus‐positive diffuse large B‐cell lymphoma of the elde 289666 C83.3 Plasmablastic lymphoma 300888 C83.3 Diffuse large B‐cell lymphoma with chronic inflammatio 238510 Lymphoproliferative syndrom 2442 0635‐308240 D82.3 77121009 X‐linked lymphoproliferative diseas 238505 3011‐615122 D72.8 Autosomal recessive lymphoproliferative disea 275517 607271 D72.8 Autoimmune lymphoproliferative syndrome with recurrent infectio 3261 3909‐614470 D72.8 Autoimmune lymphoproliferative syndrom 275523 605233 D72.8 Dianzani autoimmune lymphoproliferative diseas 268114 D72.8 RAS‐associated autoimmune lymphoproliferative diseas