[ { "phenotype_id": "PH1705", "phenotype_version_id": 3630, "name": "Chronic paediatric conditions: Non-malignant haematological", "definition": "This code list is part of a set of harmonised code lists to identify chronic paediatric\nconditions across primary and secondary care datasets across the UK.\n\n- ICD-10 anaemia and blood disorder conditions as per Hardelid 2014, mapped to SNOMED and Read v2 using CALIBER.\n- Includes e.g., haemolytic anaemias, aplastic anaemias and coagulation defects.\n- Excludes nutritional anaemias (very common), unspecified neutropenia, lymphopenia and thrombocytopaenia (broad categories which may be acute findings rather than diagnoses).\n- Excludes disorders of neutrophil function and genetic disorders of leucocyte function (moved to immunological).\n- Excludes haemophagocytic lymphohistiocytosis (moved to rheumatological).\n\n### Methods\n\nChronic paediatric conditions were defined as health problems requiring medical follow-up\nfor more than 12 months in 50% or more of cases. Code lists were produced by mapping\nexisting ICD-10 codes for chronic paediatric conditions to SNOMED and Read v2 codes\nusing the CALIBER R package, with review by paediatric sub-specialists.\n\nAn established ICD-10 code list of chronic paediatric conditions (Hardelid 2014)\nwas used as the basis for the new lists.[1] Chronic paediatric conditions were defined\nas any health problem requiring medical follow-up (hospital admission, outpatient\nfollow up or use of support services such as physiotherapy) for more than 12 months\nin 50% or more of cases.[1] A Chronic Paediatric Conditions Committee of paediatric\nsub-specialists was established. The original ICD-10 list was screened by two paediatricians\nand acute conditions removed, with disagreements resolved by a third paediatrician.\nConditions which were likely acute and would not fulfil our chronic disease definition\nwere excluded, including skeletal injuries and self-harm. Drug-induced conditions\nwere excluded as chronicity was not known. Infections other than human immunodeficiency\nvirus (HIV), hepatitis B or C, or congenital infections (syphilis / toxoplasmosis\n/ rubella / herpes simplex virus / cytomegalovirus) were excluded. Chronic sequelae\nof infections were retained.\n\nPublished code lists were then identified for Read v2 and SNOMED codes for well-characterised\nconditions including asthma, diabetes, cystic fibrosis and cancer. The remaining\nICD-10 codes were mapped to SNOMED and Read v2 codes using the CALIBER R package\nand Technology Reference Update Distribution NHS Data Migration tables [2] to produce\nnew code lists suitable for primary care data. These resulting code lists were screened\nby two sub-specialists to ensure conditions were chronic and in the correct subgroup\nwith disagreements resolved by a third clinician.\n\n### References:\n\n1. Hardelid P, Dattani N, Gilbert R. Estimating the prevalence of chronic conditions in children who die in England, Scotland and Wales: a data linkage cohort study. BMJ Open 2014; 4: e005331.\n2. CALIBER codelists-package: Generate ICD, Read and OPCS codelists in CALIBER codelists: Generate ICD10, Read and OPCS codelists, [https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html](https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html) (accessed 19 October 2022).\n\n", "implementation": "We have considered conditions to be active if they had been coded for in the preceding\nfive years. In addition, conditions from the following subgroups were considered\nto be permanent, therefore active if coded for at any time: metabolic, diabetes,\ncystic fibrosis, transplant, receiving palliative care, other congenital multisystem\nsyndromes and chromosomal abnormalities, immunological and cerebral palsy / paralysis\n(a subgroup of \"Other neurology\" code list).\n", "publications": [], "validation": "", "citation_requirements": "To our knowledge, these are the first set of harmonised code lists for chronic paediatric\nconditions that span commonly used primary and secondary care coding systems in the\nUK. We hope they will prove a valuable resource for the paediatric research community\nand welcome suggestions for further development ([Olivia.Swann@ed.ac.uk](mailto:Olivia.Swann@ed.ac.uk)).\n", "created": "2025-01-19T16:17:21.975212Z", "author": "Swann OV, Williams TC, Fraser LK, Farrell J, Parker M, Kennedy J, Seabourne M, Brophy S, Harrison EM, Docherty AB, Pollock L", "collections": [ { "name": "Phenotype Library", "value": 18 } ], "tags": null, "organisation": null, "world_access": 2, "updated": "2025-01-19T16:17:21.940828Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "ontology": [ { "name": "Paediatrics", "value": 842203 }, { "name": "Paediatric and Perinatal Pathology", "value": 842275 } ], "phenoflowid": "", "data_sources": [ { "name": "Hospital Episode Statistics Admitted Patient Care", "value": 2, "uid": "6599230a-df54-4615-937c-d724d239491f", "url": "https://healthdatagateway.org/en/dataset/875", "datasource_id": 875 }, { "name": "OpenSAFELY SNOMED CT", "value": 36, "datasource_id": 36 }, { "name": "Patient Episode Dataset for Wales (PEDW)", "value": 40, "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852", "url": "https://healthdatagateway.org/en/dataset/318", "datasource_id": 318 }, { "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care", "value": 502, "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2", "url": "https://healthdatagateway.org/en/dataset/355", "datasource_id": 355 } ], "coding_system": [ { "name": "SNOMED CT codes", "value": 9 }, { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v2", "value": 5 } ], "event_date_range": "2021/01/01 - 2021/01/01", "concept_information": [ { "concept_id": 4149, "concept_version_id": 11509, "concept_name": "Non-malignant haematological (ICD-10)", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1705", "phenotype_version_id": 3630, "phenotype_name": "Chronic paediatric conditions: Non-malignant haematological", "code_attribute_header": null, "codes": [ { "code": "D55", "description": "Anaemia due to enzyme disorders", "attributes": null }, { "code": "D550", "description": "Anaemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency", "attributes": null }, { "code": "D551", "description": "Anaemia due to other disorders of glutathione metabolism", "attributes": null }, { "code": "D552", "description": "Anaemia due to disorders of glycolytic enzymes", "attributes": null }, { "code": "D553", "description": "Anaemia due to disorders of nucleotide metabolism", "attributes": null }, { "code": "D558", "description": "Other anaemias due to enzyme disorders", "attributes": null }, { "code": "D559", "description": "Anaemia due to enzyme disorder, unspecified", "attributes": null }, { "code": "D560", "description": "Alpha thalassaemia", "attributes": null }, { "code": "D562", "description": "Delta-beta thalassaemia", "attributes": null }, { "code": "D564", "description": "Hereditary persistence of fetal haemoglobin [HPFH]", "attributes": null }, { "code": "D568", "description": "Other thalassaemias", "attributes": null }, { "code": "D569", "description": "Thalassaemia, unspecified", "attributes": null }, { "code": "D570", "description": "Sickle-cell anaemia with crisis", "attributes": null }, { "code": "D571", "description": "Sickle-cell anaemia without crisis", "attributes": null }, { "code": "D572", "description": "Double heterozygous sickling disorders", "attributes": null }, { "code": "D578", "description": "Other sickle-cell disorders", "attributes": null }, { "code": "D58", "description": "Other hereditary haemolytic anaemias", "attributes": null }, { "code": "D580", "description": "Hereditary spherocytosis", "attributes": null }, { "code": "D581", "description": "Hereditary elliptocytosis", "attributes": null }, { "code": "D582", "description": "Other haemoglobinopathies", "attributes": null }, { "code": "D588", "description": "Other specified hereditary haemolytic anaemias", "attributes": null }, { "code": "D589", "description": "Hereditary haemolytic anaemia, unspecified", "attributes": null }, { "code": "D610", "description": "Constitutional aplastic anaemia", "attributes": null }, { "code": "D619", "description": "Aplastic anaemia, unspecified", "attributes": null }, { "code": "D630", "description": "Anaemia in neoplastic disease", "attributes": null }, { "code": "D638", "description": "Anaemia in other chronic diseases classified elsewhere", "attributes": null }, { "code": "D640", "description": "Hereditary sideroblastic anaemia", "attributes": null }, { "code": "D641", "description": "Secondary sideroblastic anaemia due to disease", "attributes": null }, { "code": "D642", "description": "Secondary sideroblastic anaemia due to drugs and toxins", "attributes": null }, { "code": "D643", "description": "Other sideroblastic anaemias", "attributes": null }, { "code": "D644", "description": "Congenital dyserythropoietic anaemia", "attributes": null }, { "code": "D648", "description": "Other specified anaemias", "attributes": null }, { "code": "D66", "description": "Hereditary factor VIII deficiency", "attributes": null }, { "code": "D67", "description": "Hereditary factor IX deficiency", "attributes": null }, { "code": "D68", "description": "Other coagulation defects", "attributes": null }, { "code": "D680", "description": "Von Willebrand disease", "attributes": null }, { "code": "D681", "description": "Hereditary factor XI deficiency", "attributes": null }, { "code": "D682", "description": "Hereditary deficiency of other clotting factors", "attributes": null }, { "code": "D684", "description": "Acquired coagulation factor deficiency", "attributes": null }, { "code": "D685", "description": "Primary Thrombophilia", "attributes": null }, { "code": "D686", "description": "Other Thrombophilia", "attributes": null }, { "code": "D688", "description": "Other specified coagulation defects", "attributes": null }, { "code": "D689", "description": "Coagulation defect, unspecified", "attributes": null }, { "code": "D69", "description": "Purpura and other haemorrhagic conditions", "attributes": null }, { "code": "D691", "description": "Qualitative platelet defects", "attributes": null }, { "code": "D692", "description": "Other nonthrombocytopenic purpura", "attributes": null }, { "code": "D693", "description": "Idiopathic thrombocytopenic purpura", "attributes": null }, { "code": "D694", "description": "Other primary thrombocytopenia", "attributes": null }, { "code": "D695", "description": "Secondary thrombocytopenia", "attributes": null }, { "code": "D696", "description": "Thrombocytopenia, unspecified", "attributes": null }, { "code": "D698", "description": "Other specified haemorrhagic conditions", "attributes": null }, { "code": "D699", "description": "Haemorrhagic condition, unspecified", "attributes": null }, { "code": "D70", "description": "Agranulocytosis", "attributes": null }, { "code": "D73", "description": "Diseases of spleen", "attributes": null }, { "code": "D730", "description": "Hyposplenism", "attributes": null }, { "code": "D731", "description": "Hypersplenism", "attributes": null }, { "code": "D732", "description": "Chronic congestive splenomegaly", "attributes": null }, { "code": "D74", "description": "Methaemoglobinaemia", "attributes": null }, { "code": "D740", "description": "Congenital methaemoglobinaemia", "attributes": null }, { "code": "D748", "description": "Other methaemoglobinaemias", "attributes": null }, { "code": "D749", "description": "Methaemoglobinaemia, unspecified", "attributes": null }, { "code": "D75", "description": "Other diseases of blood and blood-forming organs", "attributes": null }, { "code": "D750", "description": "Familial erythrocytosis", "attributes": null }, { "code": "D751", "description": "Secondary polycythaemia", "attributes": null }, { "code": "D758", "description": "Other specified diseases of blood and blood-forming organs", "attributes": null }, { "code": "E744", "description": "Disorders of pyruvate metabolism and gluconeogenesis", "attributes": null }, { "code": "E831", "description": "Disorders of iron metabolism", "attributes": null } ] }, { "concept_id": 4150, "concept_version_id": 11510, "concept_name": "Non-malignant haematological (Read v2)", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1705", "phenotype_version_id": 3630, "phenotype_name": "Chronic paediatric conditions: Non-malignant haematological", "code_attribute_header": null, "codes": [ { "code": "C310.12", "description": "Glucose-6-phosphate deficiency", "attributes": null }, { "code": "C310212", "description": "Glucose-6-phosphatase deficiency", "attributes": null }, { "code": "C310213", "description": "Glycogenosis, type 1", "attributes": null }, { "code": "C350.00", "description": "Disorders of iron metabolism", "attributes": null }, { "code": "C350000", "description": "Haemochromatosis", "attributes": null }, { "code": "C350011", "description": "Bronzed diabetes", "attributes": null }, { "code": "C350012", "description": "Pigmentary cirrhosis of liver", "attributes": null }, { "code": "C350013", "description": "Von Recklinghausen - Applebaum disease", "attributes": null }, { "code": "C350100", "description": "Haemosiderosis, primary", "attributes": null }, { "code": "C350200", "description": "Haemosiderosis, acquired", "attributes": null }, { "code": "C350400", "description": "Haemosiderosis NOS", "attributes": null }, { "code": "C350y00", "description": "Other specified disorder of iron metabolism", "attributes": null }, { "code": "C350z00", "description": "Disorder of iron metabolism NOS", "attributes": null }, { "code": "D1...00", "description": "Haemolytic anaemias", "attributes": null }, { "code": "D10..00", "description": "Hereditary haemolytic anaemias", "attributes": null }, { "code": "D100.00", "description": "Hereditary spherocytosis", "attributes": null }, { "code": "D100.11", "description": "Acholuric familial jaundice", "attributes": null }, { "code": "D100.12", "description": "Minkowski - Chauffard syndrome", "attributes": null }, { "code": "D102.00", "description": "Haemolytic anaemia due to glutathione metabolism disorder", "attributes": null }, { "code": "D102000", "description": "Glucose-6-phosphate dehydrogenase deficiency anaemia", "attributes": null }, { "code": "D102100", "description": "Favism", "attributes": null }, { "code": "D102y00", "description": "Other specified haemolytic anaemia due to glutathione metabolism disorder", "attributes": null }, { "code": "D102z00", "description": "Haemolytic anaemia due to glutathione metabolism disorder NOS", "attributes": null }, { "code": "D103.00", "description": "Other enzyme deficiency haemolytic anaemia", "attributes": null }, { "code": "D103000", "description": "Haemolytic anaemia due to hexokinase deficiency", "attributes": null }, { "code": "D103100", "description": "Haemolytic anaemia due to pyruvate kinase deficiency", "attributes": null }, { "code": "D103200", "description": "Haemolytic anaemia due to triose phosphate isomerase deficiency", "attributes": null }, { "code": "D103300", "description": "Anaemia due to disorders of nucleotide metabolism", "attributes": null }, { "code": "D103z00", "description": "Enzyme deficiency haemolytic anaemia NOS", "attributes": null }, { "code": "D104.00", "description": "Thalassaemia", "attributes": null }, { "code": "D104.11", "description": "Leptocytosis, hereditary", "attributes": null }, { "code": "D104.12", "description": "Mediterranean anaemia", "attributes": null }, { "code": "D104200", "description": "Thalassaemia with haemoglobin S disease", "attributes": null }, { "code": "D104211", "description": "Sickle-cell thalassaemia", "attributes": null }, { "code": "D104300", "description": "Alpha thalassaemia", "attributes": null }, { "code": "D104311", "description": "Homozygous alpha thalassaemia", "attributes": null }, { "code": "D104900", "description": "Delta-beta thalassaemia", "attributes": null }, { "code": "D104A00", "description": "Hereditary leptocytosis", "attributes": null }, { "code": "D104z00", "description": "Thalassaemia NOS", "attributes": null }, { "code": "D104z11", "description": "Mediterranean anaemia", "attributes": null }, { "code": "D106.00", "description": "Sickle-cell anaemia", "attributes": null }, { "code": "D106000", "description": "Sickle-cell anaemia of unspecified type", "attributes": null }, { "code": "D106100", "description": "Sickle-cell anaemia with no crisis", "attributes": null }, { "code": "D106200", "description": "Sickle-cell anaemia with crisis", "attributes": null }, { "code": "D106300", "description": "Sickle-cell anaemia with haemoglobin C disease", "attributes": null }, { "code": "D106400", "description": "Sickle-cell anaemia with haemoglobin D disease", "attributes": null }, { "code": "D106500", "description": "Sickle-cell anaemia with haemoglobin E disease", "attributes": null }, { "code": "D106z00", "description": "Sickle-cell anaemia NOS", "attributes": null }, { "code": "D107.00", "description": "Other haemoglobinopathies", "attributes": null }, { "code": "D107000", "description": "Congenital Heinz-body anaemia", "attributes": null }, { "code": "D107200", "description": "Haemoglobin Bart's disease", "attributes": null }, { "code": "D107300", "description": "Haemoglobin-C disease", "attributes": null }, { "code": "D107400", "description": "Haemoglobin-D disease", "attributes": null }, { "code": "D107600", "description": "Haemoglobin Zurich disease", "attributes": null }, { "code": "D107700", "description": "Haemoglobin-H disease", "attributes": null }, { "code": "D107y00", "description": "Other specified other haemoglobinopathy", "attributes": null }, { "code": "D107z00", "description": "Other haemoglobinopathy NOS", "attributes": null }, { "code": "D10y.00", "description": "Other specified hereditary haemolytic anaemias", "attributes": null }, { "code": "D10yz00", "description": "Other specified hereditary haemolytic anaemia NOS", "attributes": null }, { "code": "D10z.00", "description": "Hereditary haemolytic anaemia NOS", "attributes": null }, { "code": "D1y..00", "description": "Other specified haemolytic anaemias", "attributes": null }, { "code": "D1z..00", "description": "Haemolytic anaemias NOS", "attributes": null }, { "code": "D20..00", "description": "Aplastic anaemia", "attributes": null }, { "code": "D200.00", "description": "Constitutional aplastic anaemia", "attributes": null }, { "code": "D200000", "description": "Congenital hypoplastic anaemia", "attributes": null }, { "code": "D200011", "description": "Constitutional aplastic anaemia without mention of malformation", "attributes": null }, { "code": "D200100", "description": "Fanconi's familial refractory anaemia", "attributes": null }, { "code": "D200111", "description": "Fanconi's hypoplastic anaemia", "attributes": null }, { "code": "D200.12", "description": "Pancytopenia with malformations", "attributes": null }, { "code": "D200.13", "description": "Blackfan - Diamond syndrome", "attributes": null }, { "code": "D200.15", "description": "Hypoplastic anaemia - familial", "attributes": null }, { "code": "D200200", "description": "Constitutional aplastic anaemia with malformation", "attributes": null }, { "code": "D200211", "description": "Pancytopenia-dysmelia", "attributes": null }, { "code": "D200300", "description": "Constitutional red cell aplasia and hypoplasia", "attributes": null }, { "code": "D200311", "description": "Blackfan - Diamond syndrome", "attributes": null }, { "code": "D200312", "description": "Congenital pure red cell aplasia", "attributes": null }, { "code": "D200313", "description": "Constitutional red cell hypoplasia", "attributes": null }, { "code": "D200314", "description": "Congenital red cell hypoplasia", "attributes": null }, { "code": "D200400", "description": "Erythrogenesis imperfecta", "attributes": null }, { "code": "D200y00", "description": "Other specified constitutional aplastic anaemia", "attributes": null }, { "code": "D200z00", "description": "Constitutional aplastic anaemia NOS", "attributes": null }, { "code": "D201500", "description": "Pancytopenia - acquired", "attributes": null }, { "code": "D201611", "description": "Pancytopenia with malformation", "attributes": null }, { "code": "D201612", "description": "Pancytopenia with pancreatitis", "attributes": null }, { "code": "D20z.00", "description": "Aplastic anaemia NOS", "attributes": null }, { "code": "D210.00", "description": "Sideroblastic anaemia", "attributes": null }, { "code": "D210000", "description": "Congenital sideroblastic anaemia", "attributes": null }, { "code": "D210100", "description": "Acquired sideroblastic anaemia", "attributes": null }, { "code": "D210200", "description": "Pyridoxine-responsive sideroblastic anaemia", "attributes": null }, { "code": "D210300", "description": "Secondary sideroblastic anaemia due to disease", "attributes": null }, { "code": "D210z00", "description": "Sideroblastic anaemia NOS", "attributes": null }, { "code": "D21y000", "description": "Congenital dyshaematopoietic anaemia", "attributes": null }, { "code": "D21y011", "description": "Congenital dyserythropoietic anaemia", "attributes": null }, { "code": "D21y012", "description": "Congenital dyserythropoiesis NEC", "attributes": null }, { "code": "D21y.11", "description": "Von Jaksch's anaemia", "attributes": null }, { "code": "D21y200", "description": "Leukoerythroblastic anaemia", "attributes": null }, { "code": "D21y300", "description": "Hereditary erythroblast multinuclearity with positive acid serum test", "attributes": null }, { "code": "D3...00", "description": "Clotting and bleeding disorders", "attributes": null }, { "code": "D30..00", "description": "Coagulation defects", "attributes": null }, { "code": "D300.00", "description": "Haemophilia-A (factor VIII deficiency)", "attributes": null }, { "code": "D300.11", "description": "Antihaemophilic globulin deficiency", "attributes": null }, { "code": "D300.12", "description": "Haemophilia A", "attributes": null }, { "code": "D301.00", "description": "Haemophilia-B (factor IX deficiency)", "attributes": null }, { "code": "D30..11", "description": "Bleeding disorders", "attributes": null }, { "code": "D301.11", "description": "Christmas disease", "attributes": null }, { "code": "D301.12", "description": "Haemophilia B", "attributes": null }, { "code": "D302.00", "description": "Haemophilia-C (factor XI deficiency)", "attributes": null }, { "code": "D302.11", "description": "Haemophilia C", "attributes": null }, { "code": "D302.12", "description": "Rosenthal's disease", "attributes": null }, { "code": "D303.00", "description": "Congenital deficiency of other clotting factors", "attributes": null }, { "code": "D303000", "description": "Congenital afibrinogenaemia", "attributes": null }, { "code": "D303100", "description": "Deficiency of factor II or prothrombin", "attributes": null }, { "code": "D303111", "description": "Hypoprothrombinaemia", "attributes": null }, { "code": "D303200", "description": "Deficiency of factor V or labile factor", "attributes": null }, { "code": "D303300", "description": "Deficiency of factor VII or stable factor", "attributes": null }, { "code": "D303400", "description": "Deficiency of factor X or Stuart-Prower factor", "attributes": null }, { "code": "D303500", "description": "Deficiency of factor XII or Hageman factor", "attributes": null }, { "code": "D303600", "description": "Deficiency of factor XIII or fibrin stabilizing factor", "attributes": null }, { "code": "D303611", "description": "Fibrin stabilising factor deficiency", "attributes": null }, { "code": "D303700", "description": "Factor V Leiden mutation", "attributes": null }, { "code": "D303800", "description": "Homozygous factor V Leiden mutation", "attributes": null }, { "code": "D303900", "description": "Heterozygous factor V Leiden mutation", "attributes": null }, { "code": "D303y00", "description": "Other specified congenital deficiency of other clotting factor", "attributes": null }, { "code": "D303z00", "description": "Congenital deficiency of other clotting factor NOS", "attributes": null }, { "code": "D304.00", "description": "Von Willebrand's disease", "attributes": null }, { "code": "D307000", "description": "Deficiency of coagulation factor due to liver disease", "attributes": null }, { "code": "D307100", "description": "Deficiency of coagulation factor due to vitamin K deficiency", "attributes": null }, { "code": "D307z00", "description": "Acquired coagulation factor deficiency NOS", "attributes": null }, { "code": "D309.00", "description": "Protein S deficiency", "attributes": null }, { "code": "D30A.00", "description": "Thrombophilia", "attributes": null }, { "code": "D30A000", "description": "Primary thrombophilia", "attributes": null }, { "code": "D30B.00", "description": "Protein C deficiency", "attributes": null }, { "code": "D30C.00", "description": "Hypofibrinogenaemia", "attributes": null }, { "code": "D30z.00", "description": "Coagulation defect NOS", "attributes": null }, { "code": "D311.00", "description": "Qualitative platelet defects", "attributes": null }, { "code": "D311000", "description": "Hereditary haemorrhagic thrombasthenia", "attributes": null }, { "code": "D311011", "description": "Glanzmann's syndrome", "attributes": null }, { "code": "D311.11", "description": "Bernard - Soulier thrombopathy", "attributes": null }, { "code": "D311z00", "description": "Qualitative platelet deficiency NOS", "attributes": null }, { "code": "D313.00", "description": "Primary thrombocytopenia", "attributes": null }, { "code": "D313000", "description": "Idiopathic thrombocytopenic purpura", "attributes": null }, { "code": "D313012", "description": "ITP - idiopathic thrombocytopenic purpura", "attributes": null }, { "code": "D313100", "description": "Congenital thrombocytopenic purpura", "attributes": null }, { "code": "D313.11", "description": "Evan's syndrome", "attributes": null }, { "code": "D313111", "description": "Hereditary thrombocytopenia NEC", "attributes": null }, { "code": "D313.12", "description": "Idiopathic thrombocytopenic purpura", "attributes": null }, { "code": "D313.14", "description": "Megakaryocytic hypoplasia", "attributes": null }, { "code": "D313.15", "description": "Thrombocytopenic purpura", "attributes": null }, { "code": "D313300", "description": "[X]Essential thrombocytopenia NOS", "attributes": null }, { "code": "D313y00", "description": "Other specified primary thrombocytopenia", "attributes": null }, { "code": "D313z00", "description": "Primary thrombocytopenia NOS", "attributes": null }, { "code": "D313z11", "description": "Essential thrombocytopenia NOS", "attributes": null }, { "code": "D314.00", "description": "Secondary thrombocytopenia", "attributes": null }, { "code": "D31y.00", "description": "Other specified haemorrhagic conditions", "attributes": null }, { "code": "D31yz00", "description": "Other specified haemorrhagic condition NOS", "attributes": null }, { "code": "D3y..00", "description": "Other specified disorders of clotting or bleeding", "attributes": null }, { "code": "D3z..00", "description": "Clotting or bleeding disorder NOS", "attributes": null }, { "code": "D400000", "description": "Idiopathic agranulocytosis", "attributes": null }, { "code": "D400011", "description": "Idiopathic neutropenia", "attributes": null }, { "code": "D400100", "description": "Primary splenic neutropenia", "attributes": null }, { "code": "D400.11", "description": "Kostmann's syndrome", "attributes": null }, { "code": "D400300", "description": "Agranulocytosis due to irradiation", "attributes": null }, { "code": "D400311", "description": "Radiation agranulocytosis", "attributes": null }, { "code": "D400312", "description": "Neutropenia due to irradiation", "attributes": null }, { "code": "D400500", "description": "Congenital neutropenia", "attributes": null }, { "code": "D400511", "description": "Congenital agranulocytosis NEC", "attributes": null }, { "code": "D400800", "description": "Acquired neutropenia NEC", "attributes": null }, { "code": "D400811", "description": "Acquired agranulocytosis NEC", "attributes": null }, { "code": "D400900", "description": "Cyclical neutropenia", "attributes": null }, { "code": "D400y00", "description": "Other specified agranulocytosis", "attributes": null }, { "code": "D400z00", "description": "Agranulocytosis NOS", "attributes": null }, { "code": "D414.00", "description": "Hypersplenism", "attributes": null }, { "code": "D415100", "description": "Chronic congestive splenamegaly", "attributes": null }, { "code": "D415400", "description": "Splenic atrophy", "attributes": null }, { "code": "D415A00", "description": "Hyposplenism", "attributes": null }, { "code": "D416.00", "description": "Familial polycythaemia", "attributes": null }, { "code": "D417.00", "description": "Methaemoglobinaemia", "attributes": null }, { "code": "D417000", "description": "Congenital methaemoglobinaemia", "attributes": null }, { "code": "D417011", "description": "Congenital methaemoglobinaemia with abnormal methaemoglobins", "attributes": null }, { "code": "D417012", "description": "Congenital methaemoglobinaema with defective methaemoglobin-reducing system", "attributes": null }, { "code": "D417100", "description": "Familial methaemoglobinaemia", "attributes": null }, { "code": "D417.11", "description": "Stokvis' disease", "attributes": null }, { "code": "D417200", "description": "Idiopathic methaemoglobinaemia", "attributes": null }, { "code": "D417500", "description": "Acquired methaemoglobinaemia", "attributes": null }, { "code": "D417z00", "description": "Methaemoglobinaemia NOS", "attributes": null }, { "code": "Dyu1.00", "description": "[X]Haemolytic anaemias", "attributes": null }, { "code": "Dyu1100", "description": "[X]Other thalassaemias", "attributes": null }, { "code": "Dyu1200", "description": "[X]Other sickle-cell disorders", "attributes": null }, { "code": "Dyu1300", "description": "[X]Other haemoglobinopathies", "attributes": null }, { "code": "Dyu1400", "description": "[X]Other specified hereditary haemolytic anaemias", "attributes": null }, { "code": "Dyu2100", "description": "[X]Other specified aplastic anaemias", "attributes": null }, { "code": "Dyu2300", "description": "[X]Other sideroblastic anaemias", "attributes": null }, { "code": "Dyu3.00", "description": "[X]Coagulation defects, purpura and other haemorrhagic conditions", "attributes": null }, { "code": "Dyu3000", "description": "[X]Other specified coagulation defects", "attributes": null }, { "code": "Dyu3200", "description": "[X]Other primary thrombocytopenia", "attributes": null }, { "code": "Dyu4200", "description": "[X]Other methaemoglobinaemias", "attributes": null }, { "code": "F100100", "description": "Schulz's disease", "attributes": null }, { "code": "F422100", "description": "Proliferative retinopathy due to sickle cell disease", "attributes": null }, { "code": "K0G..00", "description": "Sickle cell nephropathy", "attributes": null }, { "code": "N006.00", "description": "Antiphospholipid syndrome", "attributes": null }, { "code": "N032000", "description": "Arthropathy due to haemophilia", "attributes": null }, { "code": "N068.00", "description": "Haemophilic arthropathy", "attributes": null }, { "code": "N334C00", "description": "Osteonecrosis due to haemoglobinopathy", "attributes": null }, { "code": "NyuCB00", "description": "[X]Osteonecrosis due to haemoglobinopathy classified elsewhere", "attributes": null }, { "code": "PJ53500", "description": "Shwachman-Diamond syndrome", "attributes": null }, { "code": "R105B00", "description": "[D]Hyperferritinaemia", "attributes": null } ] }, { "concept_id": 4151, "concept_version_id": 11511, "concept_name": "Non-malignant haematological (SNOMED-CT)", "coding_system": { "id": 9, "name": "SNOMED CT codes", "description": "SNOMED CT codes" }, "phenotype_id": "PH1705", "phenotype_version_id": 3630, "phenotype_name": "Chronic paediatric conditions: Non-malignant haematological", "code_attribute_header": null, "codes": [ { "code": "10180006", "description": "Focal hemosiderosis (disorder)", "attributes": null }, { "code": "105599000", "description": "Anemia related to disturbed deoxyribonucleic acid synthesis (disorder)", "attributes": null }, { "code": "105601003", "description": "Quantitative disorder of neutrophils (disorder)", "attributes": null }, { "code": "105604006", "description": "Deficiency of naturally occurring coagulation factor inhibitor (disorder)", "attributes": null }, { "code": "10564005", "description": "Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)", "attributes": null }, { "code": "10749581000119100", "description": "Blood coagulation disorder complicating childbirth (disorder)", "attributes": null }, { "code": "10749641000119106", "description": "Blood coagulation disorder complicating pregnancy (disorder)", "attributes": null }, { "code": "10759351000119103", "description": "Sickle cell anemia in mother complicating childbirth (disorder)", "attributes": null }, { "code": "10806241000119108", "description": "Thalassemia in mother complicating childbirth (disorder)", "attributes": null }, { "code": "111199007", "description": "Purpura pigmentosa chronica (disorder)", "attributes": null }, { "code": "111575000", "description": "Anemia due to membrane defect (disorder)", "attributes": null }, { "code": "111576004", "description": "Acquired stomatocytosis (disorder)", "attributes": null }, { "code": "111577008", "description": "Anemia due to enzyme deficiency (disorder)", "attributes": null }, { "code": "111578003", "description": "Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)", "attributes": null }, { "code": "111579006", "description": "Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)", "attributes": null }, { "code": "111585004", "description": "Neutropenia associated with autoimmune disease (disorder)", "attributes": null }, { "code": "111589005", "description": "Dysfibrinogenemia (disorder)", "attributes": null }, { "code": "115963009", "description": "Regenerative anemia (disorder)", "attributes": null }, { "code": "11603001", "description": "Sickle cell retinopathy (disorder)", "attributes": null }, { "code": "11888009", "description": "Hyperviscosity syndrome (disorder)", "attributes": null }, { "code": "123728005", "description": "Recurrent bone marrow hyperplasia (disorder)", "attributes": null }, { "code": "123772008", "description": "Homozygous hemoglobinopathy (disorder)", "attributes": null }, { "code": "123773003", "description": "Heterozygous hemoglobinopathy (disorder)", "attributes": null }, { "code": "123786007", "description": "Blood coagulation disorder with shortened coagulation time (disorder)", "attributes": null }, { "code": "123787003", "description": "Blood coagulation disorder with prolonged coagulation time (disorder)", "attributes": null }, { "code": "123788008", "description": "Blood coagulation disorder with shortened bleeding time (disorder)", "attributes": null }, { "code": "123789000", "description": "Blood coagulation disorder with prolonged bleeding time (disorder)", "attributes": null }, { "code": "123790009", "description": "Blood coagulation disorder with impaired clot retraction time (disorder)", "attributes": null }, { "code": "124134002", "description": "Deficiency of glucose-6-phosphate dehydrogenase (disorder)", "attributes": null }, { "code": "124297004", "description": "Deficiency of hexokinase (disorder)", "attributes": null }, { "code": "124340003", "description": "Deficiency of adenylate kinase (disorder)", "attributes": null }, { "code": "124437004", "description": "Deficiency of glucose-6-phosphatase (disorder)", "attributes": null }, { "code": "12501008", "description": "von Willebrand disease, type IIF (disorder)", "attributes": null }, { "code": "127038008", "description": "Hereditary hemoglobinopathy due to globin chain mutation (disorder)", "attributes": null }, { "code": "127039000", "description": "Acquired hemoglobinopathy (disorder)", "attributes": null }, { "code": "127040003", "description": "Sickle cell-hemoglobin SS disease (disorder)", "attributes": null }, { "code": "127041004", "description": "Sickle cell-beta-thalassemia (disorder)", "attributes": null }, { "code": "127042006", "description": "Sickle cell beta plus thalassemia (disorder)", "attributes": null }, { "code": "127043001", "description": "Sickle cell-beta^0^-thalassemia (disorder)", "attributes": null }, { "code": "127044007", "description": "Sickle cell-delta beta^0^-thalassemia (disorder)", "attributes": null }, { "code": "127045008", "description": "Sickle cell anemia with coexistent alpha-thalassemia (disorder)", "attributes": null }, { "code": "127046009", "description": "Sickle cell trait with coexistent alpha-thalassemia (disorder)", "attributes": null }, { "code": "127047000", "description": "Sickle cell-hemoglobin Lepore disease (disorder)", "attributes": null }, { "code": "127048005", "description": "Sickle cell-Hemoglobin O Arab disease (disorder)", "attributes": null }, { "code": "127062003", "description": "Erythrocytosis (disorder)", "attributes": null }, { "code": "127065001", "description": "Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder)", "attributes": null }, { "code": "127066000", "description": "Familial polycythemia vera (disorder)", "attributes": null }, { "code": "128088003", "description": "Blood coagulation disorder, categorized by value of screening test (disorder)", "attributes": null }, { "code": "128091003", "description": "Autoimmune thrombocytopenia (disorder)", "attributes": null }, { "code": "128092005", "description": "Secondary autoimmune thrombocytopenia (disorder)", "attributes": null }, { "code": "128093000", "description": "Alloimmune thrombocytopenia (disorder)", "attributes": null }, { "code": "128094006", "description": "Alloimmune platelet transfusion refractoriness (disorder)", "attributes": null }, { "code": "128095007", "description": "Acquired platelet function disorder (disorder)", "attributes": null }, { "code": "128096008", "description": "Hereditary platelet function disorder (disorder)", "attributes": null }, { "code": "128098009", "description": "Scott syndrome (disorder)", "attributes": null }, { "code": "128099001", "description": "Platelet storage pool defect (disorder)", "attributes": null }, { "code": "128100009", "description": "Mixed alpha granule and dense body deficiency (disorder)", "attributes": null }, { "code": "128101008", "description": "Platelet factor V deficiency (factor V Quebec) (disorder)", "attributes": null }, { "code": "128102001", "description": "Familial alpha>2< adrenergic receptor defect in platelets (disorder)", "attributes": null }, { "code": "128103006", "description": "Isolated collagen aggregation defect (disorder)", "attributes": null }, { "code": "128105004", "description": "von Willebrand disorder (disorder)", "attributes": null }, { "code": "128106003", "description": "von Willebrand disease type 1 (disorder)", "attributes": null }, { "code": "128107007", "description": "von Willebrand disease type 2 (disorder)", "attributes": null }, { "code": "128108002", "description": "von Willebrand disease type 3 (disorder)", "attributes": null }, { "code": "128113003", "description": "von Willebrand disease type IB (disorder)", "attributes": null }, { "code": "128114009", "description": "von Willebrand disease type IC (disorder)", "attributes": null }, { "code": "128115005", "description": "Pseudo von Willebrand disease (disorder)", "attributes": null }, { "code": "129640007", "description": "Benign granulocytopenia in childhood (disorder)", "attributes": null }, { "code": "129641006", "description": "Chronic benign neutropenia of childhood (disorder)", "attributes": null }, { "code": "129642004", "description": "Chronic idiopathic immunoneutropenia in adults (disorder)", "attributes": null }, { "code": "129643009", "description": "Chronic hypoplastic neutropenia (disorder)", "attributes": null }, { "code": "129645002", "description": "Adult glucose-6-phosphate dehydrogenase deficiency of leukocytes syndrome (disorder)", "attributes": null }, { "code": "129654004", "description": "Acquired platelet factor 3 disease (disorder)", "attributes": null }, { "code": "13172003", "description": "Chronic idiopathic thrombocytopenic purpura (disorder)", "attributes": null }, { "code": "13886001", "description": "Sickle cell nephropathy (disorder)", "attributes": null }, { "code": "13993001", "description": "Factor XIII inhibitor disorder (disorder)", "attributes": null }, { "code": "14087004", "description": "Hereditary stomatocytosis (disorder)", "attributes": null }, { "code": "14126008", "description": "Autosomal-linked pyridoxine refractory sideroblastic anemia (disorder)", "attributes": null }, { "code": "143101000119101", "description": "Hemochromatosis following repeated red blood cell transfusion (disorder)", "attributes": null }, { "code": "14514008", "description": "Anemia due to disturbance of hemoglobin synthesis (disorder)", "attributes": null }, { "code": "15121005", "description": "Hereditary elliptocytosis due to glycophorin C deficiency (disorder)", "attributes": null }, { "code": "154818001", "description": "Congenital afibrinogenemia (disorder)", "attributes": null }, { "code": "154826009", "description": "Secondary thrombocytopenia (disorder)", "attributes": null }, { "code": "1563006", "description": "Protein S deficiency disease (disorder)", "attributes": null }, { "code": "16360009", "description": "Delta beta thalassemia (disorder)", "attributes": null }, { "code": "16427007", "description": "Delta thalassemia (disorder)", "attributes": null }, { "code": "16773005", "description": "Drug-induced coagulation inhibitor disorder (disorder)", "attributes": null }, { "code": "16872008", "description": "Severe hereditary factor VIII deficiency disease (disorder)", "attributes": null }, { "code": "16922007", "description": "Hereditary coagulation factor deficiency (disorder)", "attributes": null }, { "code": "16964007", "description": "Hereditary persistence of fetal hemoglobin thalassemia (disorder)", "attributes": null }, { "code": "17342003", "description": "Familial erythrocytosis (disorder)", "attributes": null }, { "code": "1801000119106", "description": "Anemia, pre-end stage renal disease on erythropoietin protocol (disorder)", "attributes": null }, { "code": "180481005", "description": "Anti-factor II disorder (disorder)", "attributes": null }, { "code": "181456001", "description": "Antiprothrombin disorder (disorder)", "attributes": null }, { "code": "18273004", "description": "Unstable hemoglobin disease (disorder)", "attributes": null }, { "code": "18604004", "description": "Factor XIII deficiency disease (disorder)", "attributes": null }, { "code": "18662002", "description": "Acquired Heinz body anemia (disorder)", "attributes": null }, { "code": "1908008", "description": "von Willebrand disease, type IIC (disorder)", "attributes": null }, { "code": "190846002", "description": "Hemosiderosis, primary (disorder)", "attributes": null }, { "code": "190847006", "description": "Hemosiderosis, acquired (disorder)", "attributes": null }, { "code": "191169008", "description": "Hereditary elliptocytosis (disorder)", "attributes": null }, { "code": "191170009", "description": "Hemolytic anemia due to glutathione metabolism disorder (disorder)", "attributes": null }, { "code": "191172001", "description": "Favism (disorder)", "attributes": null }, { "code": "191177007", "description": "Hemolytic anemia due to hexokinase deficiency (disorder)", "attributes": null }, { "code": "191178002", "description": "Hemolytic anemia due to pyruvate kinase deficiency (disorder)", "attributes": null }, { "code": "191179005", "description": "Hemolytic anemia due to triose phosphate isomerase deficiency (disorder)", "attributes": null }, { "code": "191180008", "description": "Anemia due to disorders of nucleotide metabolism (disorder)", "attributes": null }, { "code": "191202009", "description": "Hemoglobin Zurich disease (disorder)", "attributes": null }, { "code": "191260004", "description": "Pyridoxine-responsive sideroblastic anemia (disorder)", "attributes": null }, { "code": "191261000", "description": "Secondary sideroblastic anemia due to disease (disorder)", "attributes": null }, { "code": "191296000", "description": "Deficiency of coagulation factor due to liver disease (disorder)", "attributes": null }, { "code": "191297009", "description": "Deficiency of coagulation factor due to vitamin K deficiency (disorder)", "attributes": null }, { "code": "191338000", "description": "Primary splenic neutropenia (disorder)", "attributes": null }, { "code": "191347008", "description": "Cyclical neutropenia (disorder)", "attributes": null }, { "code": "191382009", "description": "Chronic congestive splenomegaly (disorder)", "attributes": null }, { "code": "191388008", "description": "Familial methemoglobinemia (disorder)", "attributes": null }, { "code": "191389000", "description": "Idiopathic methemoglobinemia (disorder)", "attributes": null }, { "code": "19267009", "description": "Lupus anticoagulant disorder (disorder)", "attributes": null }, { "code": "193370005", "description": "Proliferative retinopathy due to sickle cell disease (disorder)", "attributes": null }, { "code": "19520006", "description": "von Willebrand disease, type IIB (disorder)", "attributes": null }, { "code": "203486002", "description": "Osteonecrosis due to hemoglobinopathy (disorder)", "attributes": null }, { "code": "21112004", "description": "Vascular hemostatic disease (disorder)", "attributes": null }, { "code": "21412009", "description": "X chromosome-linked pyridoxine refractory sideroblastic anemia (disorder)", "attributes": null }, { "code": "21914002", "description": "Anemia of thyroid dysfunction (disorder)", "attributes": null }, { "code": "22347002", "description": "Anemia of gonadal dysfunction (disorder)", "attributes": null }, { "code": "22716005", "description": "Platelet disorder (disorder)", "attributes": null }, { "code": "22933009", "description": "Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder)", "attributes": null }, { "code": "232033003", "description": "Sickle cell-hemoglobin C retinopathy (disorder)", "attributes": null }, { "code": "23269001", "description": "Double heterozygous sickling disorder (disorder)", "attributes": null }, { "code": "23371004", "description": "Epsilon gamma delta beta thalassemia (disorder)", "attributes": null }, { "code": "234345001", "description": "von Jaksch's anemia (disorder)", "attributes": null }, { "code": "234365008", "description": "Thiamine-responsive macrocytosis (disorder)", "attributes": null }, { "code": "234366009", "description": "Alcohol-related sideroblastic anemia (disorder)", "attributes": null }, { "code": "234367000", "description": "Pancytopenia with pancreatitis (disorder)", "attributes": null }, { "code": "234373004", "description": "Constitutional red cell hypoplasia (disorder)", "attributes": null }, { "code": "234383000", "description": "Homozygous alpha thalassemia (disorder)", "attributes": null }, { "code": "234388009", "description": "Delta-beta-Lepore thalassemia (disorder)", "attributes": null }, { "code": "234389001", "description": "Alpha-beta thalassemia (disorder)", "attributes": null }, { "code": "234390005", "description": "Gamma thalassemia (disorder)", "attributes": null }, { "code": "234391009", "description": "Sickle cell anemia with high hemoglobin F (disorder)", "attributes": null }, { "code": "234392002", "description": "Hemoglobin E/beta thalassemia disease (disorder)", "attributes": null }, { "code": "234394001", "description": "High affinity hemoglobin (disorder)", "attributes": null }, { "code": "234395000", "description": "Congenital methemoglobinaema with defective methemoglobin-reducing system (disorder)", "attributes": null }, { "code": "234396004", "description": "Congenital methemoglobinemia with abnormal methemoglobins (disorder)", "attributes": null }, { "code": "234401000", "description": "Erythrocyte enzyme deficiency (disorder)", "attributes": null }, { "code": "234402007", "description": "Chronic non-spherocytic hemolytic anemia (disorder)", "attributes": null }, { "code": "234404008", "description": "Glucose phosphate isomerase deficiency (disorder)", "attributes": null }, { "code": "234405009", "description": "Triose phosphate isomerase deficiency (disorder)", "attributes": null }, { "code": "234407001", "description": "Uridine monophosphate hydrolase deficiency (disorder)", "attributes": null }, { "code": "234408006", "description": "Adenosine deaminase overproduction (disorder)", "attributes": null }, { "code": "234410008", "description": "Hereditary elliptocytosis with transient poikilocytosis (disorder)", "attributes": null }, { "code": "234411007", "description": "Blood group deletion syndrome (disorder)", "attributes": null }, { "code": "234418001", "description": "Chronic benign granulocytopenia (disorder)", "attributes": null }, { "code": "234423001", "description": "Chronic benign neutropenia (disorder)", "attributes": null }, { "code": "234424007", "description": "Metabolic neutropenia (disorder)", "attributes": null }, { "code": "234425008", "description": "Autoimmune neutropenia (disorder)", "attributes": null }, { "code": "234440005", "description": "Factor VIII deficiency (disorder)", "attributes": null }, { "code": "234441009", "description": "Carrier of hereditary factor VIII deficiency disease (finding)", "attributes": null }, { "code": "234442002", "description": "Hereditary factor VIII deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "234444001", "description": "Congenital factor IX deficiency variant (disorder)", "attributes": null }, { "code": "234445000", "description": "Congenital factor IX deficiency with inhibitor (disorder)", "attributes": null }, { "code": "234446004", "description": "Congenital von Willebrand's disease (disorder)", "attributes": null }, { "code": "234447008", "description": "Congenital von Willebrand's disease type I (disorder)", "attributes": null }, { "code": "234448003", "description": "Congenital von Willebrand's disease type II (disorder)", "attributes": null }, { "code": "234450006", "description": "Congenital von Willebrand's disease type III (disorder)", "attributes": null }, { "code": "234451005", "description": "Acquired von Willebrand's disease (disorder)", "attributes": null }, { "code": "234453008", "description": "Passovoy factor deficiency (disorder)", "attributes": null }, { "code": "234454002", "description": "Prothrombin complex deficiency (disorder)", "attributes": null }, { "code": "234455001", "description": "Fibrinogen abnormality (disorder)", "attributes": null }, { "code": "234456000", "description": "Congenital fibrinogen abnormality (disorder)", "attributes": null }, { "code": "234457009", "description": "Hypofibrinogenemia (disorder)", "attributes": null }, { "code": "234458004", "description": "Hypodysfibrinogenemia (disorder)", "attributes": null }, { "code": "234459007", "description": "Alpha chain defect dysfibrinogenemia (disorder)", "attributes": null }, { "code": "234460002", "description": "Beta chain defect dysfibrinogenemia (disorder)", "attributes": null }, { "code": "234461003", "description": "Gamma chain defect dysfibrinogenemia (disorder)", "attributes": null }, { "code": "234463000", "description": "Combined coagulation factor deficiency (disorder)", "attributes": null }, { "code": "234466008", "description": "Acquired coagulation disorder (disorder)", "attributes": null }, { "code": "234467004", "description": "Thrombophilia (disorder)", "attributes": null }, { "code": "234468009", "description": "Heparin cofactor II deficiency (disorder)", "attributes": null }, { "code": "234470000", "description": "Platelet membrane defect (disorder)", "attributes": null }, { "code": "234471001", "description": "Glycoprotein Ia defect (disorder)", "attributes": null }, { "code": "234472008", "description": "Glycoprotein Ib defect (disorder)", "attributes": null }, { "code": "234473003", "description": "Platelet type von Willebrand's disease (disorder)", "attributes": null }, { "code": "234474009", "description": "Dense body defect (disorder)", "attributes": null }, { "code": "234475005", "description": "Thromboxane generation defect (disorder)", "attributes": null }, { "code": "234476006", "description": "Cyclooxygenase deficiency (disorder)", "attributes": null }, { "code": "234477002", "description": "Thromboxane synthetase deficiency (disorder)", "attributes": null }, { "code": "234478007", "description": "Giant platelet syndrome (disorder)", "attributes": null }, { "code": "234479004", "description": "Acquired platelet disorder (disorder)", "attributes": null }, { "code": "234482009", "description": "Amegakaryocytic thrombocytopenia (disorder)", "attributes": null }, { "code": "234483004", "description": "Megakaryocytic thrombocytopenia (disorder)", "attributes": null }, { "code": "234485006", "description": "Epstein syndrome (disorder)", "attributes": null }, { "code": "234486007", "description": "Montreal platelet syndrome (disorder)", "attributes": null }, { "code": "234487003", "description": "Mediterranean thrombocytopenia (disorder)", "attributes": null }, { "code": "234496003", "description": "Metabolic purpura (disorder)", "attributes": null }, { "code": "234511009", "description": "Post-splenectomy disorder (disorder)", "attributes": null }, { "code": "234513007", "description": "Post-splenectomy leukocytosis (disorder)", "attributes": null }, { "code": "234576008", "description": "Chronic familial neutropenia (disorder)", "attributes": null }, { "code": "234605000", "description": "Factor B deficiency (disorder)", "attributes": null }, { "code": "234621005", "description": "Factor I deficiency (disorder)", "attributes": null }, { "code": "236422008", "description": "Fechtner syndrome (disorder)", "attributes": null }, { "code": "23761004", "description": "Hyposplenism (disorder)", "attributes": null }, { "code": "237985009", "description": "Pearson's syndrome (disorder)", "attributes": null }, { "code": "239892009", "description": "Primary antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "239894005", "description": "Primary antiphospholipid syndrome with multisystem involvement (disorder)", "attributes": null }, { "code": "239895006", "description": "Secondary antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "239897003", "description": "Secondary antiphospholipid syndrome with multisystem involvement (disorder)", "attributes": null }, { "code": "24661004", "description": "Glucose-6-phosphate dehydrogenase deficiency class III variant anemia (disorder)", "attributes": null }, { "code": "24663001", "description": "von Willebrand disease, type IIH (disorder)", "attributes": null }, { "code": "247860002", "description": "Familial neutropenia (disorder)", "attributes": null }, { "code": "248693006", "description": "Chronic idiopathic neutropenia (disorder)", "attributes": null }, { "code": "24974008", "description": "Myelokathexis (disorder)", "attributes": null }, { "code": "24975009", "description": "Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)", "attributes": null }, { "code": "25065001", "description": "Hemoglobin E disease (disorder)", "attributes": null }, { "code": "25251008", "description": "Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)", "attributes": null }, { "code": "25266006", "description": "Hereditary spherocytosis due to spectrin deficiency (disorder)", "attributes": null }, { "code": "25443007", "description": "X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder)", "attributes": null }, { "code": "25472008", "description": "Sickle cell-hemoglobin D disease (disorder)", "attributes": null }, { "code": "26029002", "description": "Mild hereditary factor VIII deficiency disease (disorder)", "attributes": null }, { "code": "26409005", "description": "Congenital dyserythropoietic anemia, type III (disorder)", "attributes": null }, { "code": "267524009", "description": "Constitutional aplastic anemia with malformation (disorder)", "attributes": null }, { "code": "267525005", "description": "Constitutional red cell aplasia and hypoplasia (disorder)", "attributes": null }, { "code": "267532001", "description": "Qualitative platelet disorder (disorder)", "attributes": null }, { "code": "267534000", "description": "Primary thrombocytopenia (disorder)", "attributes": null }, { "code": "267535004", "description": "Congenital thrombocytopenic purpura (disorder)", "attributes": null }, { "code": "267540007", "description": "Neutropenia caused by irradiation (disorder)", "attributes": null }, { "code": "267550008", "description": "Congenital methemoglobinemia (disorder)", "attributes": null }, { "code": "26843008", "description": "Antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "2694001", "description": "Myelophthisic anemia (disorder)", "attributes": null }, { "code": "270117002", "description": "Platelet type pseudo-von Willebrand disease (disorder)", "attributes": null }, { "code": "275325009", "description": "Arthropathy secondary to hemoglobinopathy (disorder)", "attributes": null }, { "code": "275523003", "description": "Pancytopenia-dysmelia (disorder)", "attributes": null }, { "code": "276448005", "description": "Idiopathic sideroblastic anemia (disorder)", "attributes": null }, { "code": "278504009", "description": "Afibrinogenemia (disorder)", "attributes": null }, { "code": "282707003", "description": "Acquired inhibitor of coagulation (disorder)", "attributes": null }, { "code": "28293008", "description": "Hereditary factor VIII deficiency disease (disorder)", "attributes": null }, { "code": "2897005", "description": "Immune thrombocytopenia (disorder)", "attributes": null }, { "code": "28975000", "description": "Constitutional aplastic anemia (disorder)", "attributes": null }, { "code": "29177004", "description": "Anemia due to pentose phosphate pathway defect (disorder)", "attributes": null }, { "code": "295315008", "description": "Acquired methemoglobinemia (disorder)", "attributes": null }, { "code": "29551000", "description": "Anemia caused by oxygen (disorder)", "attributes": null }, { "code": "296332004", "description": "Acquired storage pool deficiency (platelets) (disorder)", "attributes": null }, { "code": "301317008", "description": "Hereditary nonspherocytic hemolytic anemia (disorder)", "attributes": null }, { "code": "302215000", "description": "Thrombocytopenic disorder (disorder)", "attributes": null }, { "code": "302873008", "description": "Thrombocytopenic purpura (disorder)", "attributes": null }, { "code": "303011007", "description": "Neutropenic disorder (disorder)", "attributes": null }, { "code": "303266002", "description": "Aplastic bone marrow (disorder)", "attributes": null }, { "code": "304132006", "description": "Hematopoietic aplasia (disorder)", "attributes": null }, { "code": "30418008", "description": "Anemia of adrenal dysfunction (disorder)", "attributes": null }, { "code": "30575002", "description": "Fanconi's anemia (disorder)", "attributes": null }, { "code": "306058006", "description": "Aplastic anemia (disorder)", "attributes": null }, { "code": "307091009", "description": "Factor V Leiden mutation (disorder)", "attributes": null }, { "code": "307115002", "description": "Homozygous Factor V Leiden mutation (disorder)", "attributes": null }, { "code": "307116001", "description": "Heterozygous Factor V Leiden mutation (disorder)", "attributes": null }, { "code": "307343001", "description": "Acquired hemoglobin H disease (disorder)", "attributes": null }, { "code": "307514008", "description": "Idiopathic factor VIII deficiency (disorder)", "attributes": null }, { "code": "307515009", "description": "Autoimmune factor VIII deficiency (disorder)", "attributes": null }, { "code": "307517001", "description": "Pregnancy-related factor VIII deficiency (disorder)", "attributes": null }, { "code": "307518006", "description": "Malignancy-related factor VIII deficiency (disorder)", "attributes": null }, { "code": "30913008", "description": "Disorder of iron metabolism (disorder)", "attributes": null }, { "code": "31820007", "description": "Anemia of endocrine disorder (disorder)", "attributes": null }, { "code": "31925001", "description": "Hereditary factor I deficiency disease (disorder)", "attributes": null }, { "code": "322699009", "description": "Intracorpuscular hemolytic anemia (disorder)", "attributes": null }, { "code": "32273002", "description": "Idiopathic thrombocytopenic purpura (disorder)", "attributes": null }, { "code": "323666000", "description": "Anemia due to intrinsic red cell abnormality (disorder)", "attributes": null }, { "code": "32648007", "description": "Mild hereditary spherocytosis due to spectrin deficiency (disorder)", "attributes": null }, { "code": "32942005", "description": "Glanzmann's thrombasthenia (disorder)", "attributes": null }, { "code": "33169001", "description": "Factor XI deficiency, type II (disorder)", "attributes": null }, { "code": "33297000", "description": "Hereditary factor II deficiency disease (disorder)", "attributes": null }, { "code": "33344008", "description": "Moderate hereditary factor VIII deficiency disease (disorder)", "attributes": null }, { "code": "33905008", "description": "Hereditary spherocytosis due to deficiency of protein 4.2 (disorder)", "attributes": null }, { "code": "34194007", "description": "Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)", "attributes": null }, { "code": "343570008", "description": "Latent hemochromatosis (disorder)", "attributes": null }, { "code": "34395002", "description": "Thrombocytopenia caused by hypothermia (disorder)", "attributes": null }, { "code": "344587002", "description": "Precirrhotic hemochromatosis (disorder)", "attributes": null }, { "code": "34852006", "description": "Glucose-6-phosphate dehydrogenase deficiency class II variant anemia (disorder)", "attributes": null }, { "code": "35066007", "description": "von Willebrand disease, type IID (disorder)", "attributes": null }, { "code": "35400008", "description": "Hereditary hemochromatosis (disorder)", "attributes": null }, { "code": "35434009", "description": "Sickle cell-hemoglobin C disease (disorder)", "attributes": null }, { "code": "35554008", "description": "Acquired factor XI deficiency disease (disorder)", "attributes": null }, { "code": "359531004", "description": "Amegakaryocytic thrombocytopenia with congenital malformation (disorder)", "attributes": null }, { "code": "359536009", "description": "Megakaryocytic aplasia (disorder)", "attributes": null }, { "code": "359700009", "description": "Hereditary von Willebrand disease type IA (disorder)", "attributes": null }, { "code": "359704000", "description": "von Willebrand disease, type 1^a^ (disorder)", "attributes": null }, { "code": "359709005", "description": "von Willebrand disease type IA (disorder)", "attributes": null }, { "code": "359711001", "description": "Hereditary von Willebrand disease type 2A (disorder)", "attributes": null }, { "code": "359714009", "description": "von Willebrand disease type 2A (disorder)", "attributes": null }, { "code": "359717002", "description": "Hereditary von Willebrand disease type 2B (disorder)", "attributes": null }, { "code": "359721009", "description": "von Willebrand disease type 2B (disorder)", "attributes": null }, { "code": "359725000", "description": "Hereditary von Willebrand disease type 2M (disorder)", "attributes": null }, { "code": "359727008", "description": "Fibrinogen deficiency (disorder)", "attributes": null }, { "code": "359732009", "description": "von Willebrand disease type 2N (disorder)", "attributes": null }, { "code": "361209006", "description": "Dermite ocre of Favre (disorder)", "attributes": null }, { "code": "362970003", "description": "Disorder of hemostatic system (disorder)", "attributes": null }, { "code": "363041004", "description": "Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder)", "attributes": null }, { "code": "36351005", "description": "Antithrombin III deficiency (disorder)", "attributes": null }, { "code": "36467003", "description": "Alpha plus thalassemia (disorder)", "attributes": null }, { "code": "36472007", "description": "Sickle cell-thalassemia disease (disorder)", "attributes": null }, { "code": "367061000119107", "description": "Priapism due to sickle cell disease (disorder)", "attributes": null }, { "code": "36799008", "description": "Glutamate-cysteine ligase deficiency (disorder)", "attributes": null }, { "code": "371074009", "description": "Radiation thrombocytopenia (disorder)", "attributes": null }, { "code": "371104006", "description": "Hand-foot syndrome in sickle cell anemia (disorder)", "attributes": null }, { "code": "37193007", "description": "Factor VII deficiency (disorder)", "attributes": null }, { "code": "372146004", "description": "Acute chest syndrome (disorder)", "attributes": null }, { "code": "37272000", "description": "Rh deficiency syndrome (disorder)", "attributes": null }, { "code": "37350004", "description": "Hereditary factor X deficiency disease (disorder)", "attributes": null }, { "code": "37492005", "description": "Sex-linked thrombocytopenia (disorder)", "attributes": null }, { "code": "3760002", "description": "Familial multiple factor deficiency syndrome, type V (disorder)", "attributes": null }, { "code": "38589006", "description": "Mixed hemoglobin disorder (disorder)", "attributes": null }, { "code": "387778001", "description": "Purpuric disorder (disorder)", "attributes": null }, { "code": "38911009", "description": "Hereditary hemolytic anemia (disorder)", "attributes": null }, { "code": "38959009", "description": "Methemoglobinemia (disorder)", "attributes": null }, { "code": "39011001", "description": "Hemosiderosis (disorder)", "attributes": null }, { "code": "3947004", "description": "High oxygen affinity hemoglobin polycythemia (disorder)", "attributes": null }, { "code": "39586009", "description": "Hereditary persistence of fetal hemoglobin A gamma beta^+^ thalassemia (disorder)", "attributes": null }, { "code": "39784009", "description": "Secondary hemosiderosis (disorder)", "attributes": null }, { "code": "399053004", "description": "Idiopathic hemochromatosis (disorder)", "attributes": null }, { "code": "399126000", "description": "Bronze cirrhosis (disorder)", "attributes": null }, { "code": "399144008", "description": "Bronze diabetes (disorder)", "attributes": null }, { "code": "399170009", "description": "Primary hemochromatosis (disorder)", "attributes": null }, { "code": "399187006", "description": "Hemochromatosis (disorder)", "attributes": null }, { "code": "40108008", "description": "Thalassemia (disorder)", "attributes": null }, { "code": "402653004", "description": "Thrombocytopenic purpura due to defective platelet production (disorder)", "attributes": null }, { "code": "402854008", "description": "Dysproteinemic purpura (disorder)", "attributes": null }, { "code": "402865003", "description": "Systemic lupus erythematosus-associated antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "402920006", "description": "Papular purpuric gloves and socks syndrome (disorder)", "attributes": null }, { "code": "403261006", "description": "Skin pigmentation due to hemosiderosis (disorder)", "attributes": null }, { "code": "40855001", "description": "Hereditary factor VII deficiency disease (disorder)", "attributes": null }, { "code": "41106001", "description": "von Willebrand factor inhibitor disorder (disorder)", "attributes": null }, { "code": "413566007", "description": "Aplastic anemia associated with pancreatitis (disorder)", "attributes": null }, { "code": "413567003", "description": "Aplastic anemia associated with pregnancy (disorder)", "attributes": null }, { "code": "41387000", "description": "Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)", "attributes": null }, { "code": "414127000", "description": "Erythrocytosis due to polycythemia vera (disorder)", "attributes": null }, { "code": "41614006", "description": "Hypoplastic anemia (disorder)", "attributes": null }, { "code": "416180004", "description": "Hemoglobin SS disease without crisis (disorder)", "attributes": null }, { "code": "416214006", "description": "Sickle cell-hemoglobin D disease without crisis (disorder)", "attributes": null }, { "code": "416290001", "description": "Hemoglobin S sickling disorder without crisis (disorder)", "attributes": null }, { "code": "416484003", "description": "Sickle cell-hemoglobin E disease with crisis (disorder)", "attributes": null }, { "code": "416638004", "description": "Sickle cell-hemoglobin E disease without crisis (disorder)", "attributes": null }, { "code": "416826005", "description": "Sickle cell-thalassemia disease with crisis (disorder)", "attributes": null }, { "code": "41690001", "description": "Factor V inhibitor disorder (disorder)", "attributes": null }, { "code": "416902009", "description": "Uremic thrombocytopenia (disorder)", "attributes": null }, { "code": "417048006", "description": "Sickle cell-thalassemia disease without crisis (disorder)", "attributes": null }, { "code": "417279003", "description": "Hemoglobin S sickling disorder with crisis (disorder)", "attributes": null }, { "code": "417357006", "description": "Sickling disorder due to hemoglobin S (disorder)", "attributes": null }, { "code": "417425009", "description": "Hemoglobin SS disease with crisis (disorder)", "attributes": null }, { "code": "417517009", "description": "Sickle cell-hemoglobin C disease with crisis (disorder)", "attributes": null }, { "code": "417626001", "description": "Thrombocytopenic purpura associated with metabolic disorder (disorder)", "attributes": null }, { "code": "417672002", "description": "Granulocytopenic disorder (disorder)", "attributes": null }, { "code": "417683006", "description": "Sickle cell-hemoglobin C disease without crisis (disorder)", "attributes": null }, { "code": "417748003", "description": "Sickle cell-hemoglobin D disease with crisis (disorder)", "attributes": null }, { "code": "41788008", "description": "Hereditary factor IX deficiency disease (disorder)", "attributes": null }, { "code": "41814009", "description": "Neutropenia with dysgranulopoiesis (disorder)", "attributes": null }, { "code": "41841004", "description": "Sideroblastic anemia (disorder)", "attributes": null }, { "code": "421102007", "description": "Aplastic anemia associated with acquired immunodeficiency syndrome (disorder)", "attributes": null }, { "code": "421132004", "description": "Platelet dysfunction associated with uremia (disorder)", "attributes": null }, { "code": "421527008", "description": "Resistance to activated protein C caused by Factor V Leiden (disorder)", "attributes": null }, { "code": "421766003", "description": "Thrombocytopenia associated with acquired immunodeficiency syndrome (disorder)", "attributes": null }, { "code": "42484009", "description": "Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder)", "attributes": null }, { "code": "425949001", "description": "Mild hereditary factor VIII deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "42601008", "description": "Congenital hemolytic anemia (disorder)", "attributes": null }, { "code": "426199009", "description": "Congenital factor IX deficiency without inhibitor (disorder)", "attributes": null }, { "code": "427306008", "description": "Hereditary hemoglobinopathy (disorder)", "attributes": null }, { "code": "4320005", "description": "Factor V deficiency (disorder)", "attributes": null }, { "code": "43346008", "description": "Platelet procoagulant activity deficiency (disorder)", "attributes": null }, { "code": "438360006", "description": "Hereditary factor VIII deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "438372000", "description": "Hereditary factor IX deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "438373005", "description": "Severe hereditary factor VIII deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "438492008", "description": "Hereditary thrombocytopenic disorder (disorder)", "attributes": null }, { "code": "43858000", "description": "Secondary aplastic anemia (disorder)", "attributes": null }, { "code": "438599002", "description": "Moderate hereditary factor VIII deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "438792009", "description": "Hereditary factor IX deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "438827002", "description": "Hereditary thrombophilic dysfibrinogenemia (disorder)", "attributes": null }, { "code": "439000005", "description": "Hyperfibrinogenemia (disorder)", "attributes": null }, { "code": "439001009", "description": "Acquired thrombophilia (disorder)", "attributes": null }, { "code": "439002002", "description": "Thrombophilia due to acquired protein C deficiency (disorder)", "attributes": null }, { "code": "439125003", "description": "Thrombophilia due to acquired protein S deficiency (disorder)", "attributes": null }, { "code": "439126002", "description": "Thrombophilia due to acquired antithrombin III deficiency (disorder)", "attributes": null }, { "code": "439145006", "description": "Congenital hypofibrinogenemia (disorder)", "attributes": null }, { "code": "439156006", "description": "Acquired combined coagulation factor deficiency (disorder)", "attributes": null }, { "code": "439157002", "description": "Hereditary combined coagulation factor deficiency (disorder)", "attributes": null }, { "code": "439274008", "description": "Hereditary protein C deficiency (disorder)", "attributes": null }, { "code": "439455002", "description": "Hereditary factor XIII A subunit deficiency (disorder)", "attributes": null }, { "code": "439458000", "description": "Factor I deficiency disease (disorder)", "attributes": null }, { "code": "439459008", "description": "Hereditary factor XIII B subunit deficiency (disorder)", "attributes": null }, { "code": "439460003", "description": "Hereditary factor XIII A subunit and B subunit deficiency (disorder)", "attributes": null }, { "code": "439698008", "description": "Hereditary thrombophilia (disorder)", "attributes": null }, { "code": "439699000", "description": "Hereditary antithrombin III deficiency (disorder)", "attributes": null }, { "code": "439701000", "description": "Hereditary heparin cofactor II deficiency (disorder)", "attributes": null }, { "code": "439702007", "description": "Hereditary protein S deficiency (disorder)", "attributes": null }, { "code": "440206000", "description": "Hemoglobin SS disease with vasoocclusive crisis (disorder)", "attributes": null }, { "code": "440820004", "description": "Mild hereditary factor VIII deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "440866009", "description": "Severe hereditary factor IX deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "440867000", "description": "Moderate hereditary factor IX deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "440868005", "description": "Mild hereditary factor IX deficiency disease with inhibitor (disorder)", "attributes": null }, { "code": "440924009", "description": "Hereditary hyperfibrinogenemia (disorder)", "attributes": null }, { "code": "440988005", "description": "Heterozygous protein S deficiency (disorder)", "attributes": null }, { "code": "440989002", "description": "Prothrombin G20210A mutation (disorder)", "attributes": null }, { "code": "440993008", "description": "Severe hereditary factor VIII deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "441001005", "description": "Hereditary elevated factor XI (disorder)", "attributes": null }, { "code": "441006000", "description": "Moderate hereditary factor VIII deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "441042008", "description": "Hereditary elevated factor VIII (disorder)", "attributes": null }, { "code": "441079006", "description": "Thrombophilia due to antiphospholipid antibody (disorder)", "attributes": null }, { "code": "441101007", "description": "Heterozygous protein C deficiency (disorder)", "attributes": null }, { "code": "441134009", "description": "Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder)", "attributes": null }, { "code": "441188004", "description": "Homozygous protein C deficiency (disorder)", "attributes": null }, { "code": "441189007", "description": "Homozygous protein S deficiency (disorder)", "attributes": null }, { "code": "441190003", "description": "Severe hereditary factor IX deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "441191004", "description": "Moderate hereditary factor IX deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "441192006", "description": "Mild hereditary factor IX deficiency disease without inhibitor (disorder)", "attributes": null }, { "code": "441420000", "description": "Homozygous prothrombin G20210A mutation (disorder)", "attributes": null }, { "code": "441421001", "description": "Heterozygous prothrombin G20210A mutation (disorder)", "attributes": null }, { "code": "441762006", "description": "Thrombophilia due to immobilization (disorder)", "attributes": null }, { "code": "441945008", "description": "Thrombophilia due to trauma (disorder)", "attributes": null }, { "code": "441990004", "description": "Thrombophilia due to paroxysmal nocturnal hemoglobinuria (disorder)", "attributes": null }, { "code": "442078001", "description": "Thrombophilia due to malignant neoplasm (disorder)", "attributes": null }, { "code": "442121006", "description": "Thrombophilia due to vascular anomaly (disorder)", "attributes": null }, { "code": "442197003", "description": "Thrombophilia caused by drug therapy (disorder)", "attributes": null }, { "code": "442363001", "description": "Thrombophilia caused by vascular device (disorder)", "attributes": null }, { "code": "442654007", "description": "Thrombophilia caused by hormone therapy (disorder)", "attributes": null }, { "code": "442760001", "description": "Thrombophilia caused by antineoplastic agent therapy (disorder)", "attributes": null }, { "code": "443230004", "description": "Myeloid metaplasia (disorder)", "attributes": null }, { "code": "444108000", "description": "Acute sickle cell splenic sequestration crisis (disorder)", "attributes": null }, { "code": "444271000", "description": "Erythropoietin resistance in anemia of chronic kidney disease (disorder)", "attributes": null }, { "code": "44641000", "description": "Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)", "attributes": null }, { "code": "447117006", "description": "Hemoglobin H constant spring thalassemia (disorder)", "attributes": null }, { "code": "45366001", "description": "Hereditary dysfibrinogenemia (disorder)", "attributes": null }, { "code": "45963004", "description": "Factor XI deficiency, type III (disorder)", "attributes": null }, { "code": "46760003", "description": "Estren-Dameshek anemia (disorder)", "attributes": null }, { "code": "47024008", "description": "Sickle cell-hemoglobin E disease (disorder)", "attributes": null }, { "code": "47047009", "description": "Thalassemia with other hemoglobinopathy (disorder)", "attributes": null }, { "code": "471863000", "description": "Disorder of myocardium due to sickle cell hemoglobinopathy (disorder)", "attributes": null }, { "code": "47307007", "description": "Factor VIII inhibitor disorder (disorder)", "attributes": null }, { "code": "47516005", "description": "Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)", "attributes": null }, { "code": "47526003", "description": "Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)", "attributes": null }, { "code": "47844003", "description": "Megaloblastic anemia due to chronic hemolytic anemia (disorder)", "attributes": null }, { "code": "48250002", "description": "Gaisbock's syndrome (disorder)", "attributes": null }, { "code": "48553001", "description": "Hemoglobin H disease (disorder)", "attributes": null }, { "code": "48788004", "description": "Cyclic thrombocytopenia (disorder)", "attributes": null }, { "code": "48983004", "description": "X chromosome-linked sideroblastic anemia (disorder)", "attributes": null }, { "code": "49762007", "description": "Hereditary factor XI deficiency disease (disorder)", "attributes": null }, { "code": "50189006", "description": "Hereditary factor XIII deficiency disease (disorder)", "attributes": null }, { "code": "50855007", "description": "Juvenile hemochromatosis (disorder)", "attributes": null }, { "code": "51053007", "description": "Hemoglobin C disease (disorder)", "attributes": null }, { "code": "51448009", "description": "Platelet secretory disorder (disorder)", "attributes": null }, { "code": "51720005", "description": "Gray platelet syndrome (disorder)", "attributes": null }, { "code": "52137009", "description": "von Willebrand disease, type IIE (disorder)", "attributes": null }, { "code": "52212006", "description": "Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)", "attributes": null }, { "code": "52413004", "description": "Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)", "attributes": null }, { "code": "52951008", "description": "Congenital dyserythropoietic anemia (disorder)", "attributes": null }, { "code": "5300004", "description": "Hemoglobin Bart's hydrops syndrome (disorder)", "attributes": null }, { "code": "5315003", "description": "Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)", "attributes": null }, { "code": "53836006", "description": "Secondary hemochromatosis (disorder)", "attributes": null }, { "code": "54006005", "description": "Hereditary persistence of fetal hemoglobin delta beta plus thalassemia (disorder)", "attributes": null }, { "code": "54569005", "description": "Bernard Soulier syndrome (disorder)", "attributes": null }, { "code": "55995005", "description": "Hereditary spherocytosis (disorder)", "attributes": null }, { "code": "56941009", "description": "Restrictive cardiomyopathy secondary to hemochromatosis (disorder)", "attributes": null }, { "code": "57020009", "description": "Stokvis' disease (disorder)", "attributes": null }, { "code": "58327003", "description": "Factor I inhibitor disorder (disorder)", "attributes": null }, { "code": "58381000", "description": "Hypersplenism (disorder)", "attributes": null }, { "code": "58639003", "description": "Doan-Wiseman syndrome (disorder)", "attributes": null }, { "code": "5876000", "description": "Acquired pancytopenia (disorder)", "attributes": null }, { "code": "59106005", "description": "Anemia due to decreased red cell production (disorder)", "attributes": null }, { "code": "59548005", "description": "Congenital dyserythropoietic anemia, type I (disorder)", "attributes": null }, { "code": "59644002", "description": "Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency (disorder)", "attributes": null }, { "code": "5967006", "description": "A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder)", "attributes": null }, { "code": "5994005", "description": "Hereditary elliptocytosis due to deficiency of protein 4.1 (disorder)", "attributes": null }, { "code": "60138009", "description": "Anemia of pituitary deficiency (disorder)", "attributes": null }, { "code": "60628003", "description": "Mediterranean macrothrombocytopenia (disorder)", "attributes": null }, { "code": "60737008", "description": "Iron overload (disorder)", "attributes": null }, { "code": "60805002", "description": "Hemolytic anemia with emphysema AND cutis laxa (disorder)", "attributes": null }, { "code": "609329007", "description": "Catastrophic antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "61261009", "description": "Hemolytic anemia (disorder)", "attributes": null }, { "code": "61395005", "description": "Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia (disorder)", "attributes": null }, { "code": "61551003", "description": "Familial multiple factor deficiency syndrome, type VI (disorder)", "attributes": null }, { "code": "6160004", "description": "Neonatal hemochromatosis (disorder)", "attributes": null }, { "code": "61777009", "description": "Thalassemia-hemoglobin C disease (disorder)", "attributes": null }, { "code": "61802005", "description": "Primary cryofibrinogenemia (disorder)", "attributes": null }, { "code": "62074008", "description": "Delta zero thalassemia (disorder)", "attributes": null }, { "code": "62268000", "description": "Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)", "attributes": null }, { "code": "62403005", "description": "Glucose-6-phosphate dehydrogenase deficiency anemia (disorder)", "attributes": null }, { "code": "63444004", "description": "Thrombocytopenia due to hypersplenism (disorder)", "attributes": null }, { "code": "64315007", "description": "Familial multiple factor deficiency syndrome, type III (disorder)", "attributes": null }, { "code": "64779008", "description": "Blood coagulation disorder (disorder)", "attributes": null }, { "code": "65623009", "description": "Immune neutropenia (disorder)", "attributes": null }, { "code": "65768009", "description": "Familial multiple factor deficiency syndrome, type II (disorder)", "attributes": null }, { "code": "66055002", "description": "Alpha zero thalassemia (disorder)", "attributes": null }, { "code": "66262001", "description": "Hereditary elliptocytosis due to beta spectrin-ankyrin interaction (disorder)", "attributes": null }, { "code": "66576001", "description": "African nutritional hemochromatosis (disorder)", "attributes": null }, { "code": "66729008", "description": "Hemoglobin D disease (disorder)", "attributes": null }, { "code": "66909001", "description": "Familial multiple factor deficiency syndrome, type IV (disorder)", "attributes": null }, { "code": "68870007", "description": "Congenital dyserythropoietic anemia, type II (disorder)", "attributes": null }, { "code": "68913001", "description": "Alpha thalassemia (disorder)", "attributes": null }, { "code": "691401000119104", "description": "Anemia co-occurrent and due to chronic kidney disease stage 4 (disorder)", "attributes": null }, { "code": "691411000119101", "description": "Anemia co-occurrent and due to chronic kidney disease stage 5 (disorder)", "attributes": null }, { "code": "691421000119108", "description": "Anemia co-occurrent and due to chronic kidney disease stage 3 (disorder)", "attributes": null }, { "code": "69216008", "description": "Hb Lepore thalassemia (disorder)", "attributes": null }, { "code": "6935003", "description": "Familial hemorrhagic diathesis (disorder)", "attributes": null }, { "code": "69574002", "description": "Anemia of parathyroid dysfunction (disorder)", "attributes": null }, { "code": "697908003", "description": "Pulmonary arterial hypertension associated with chronic hemolytic anemia (disorder)", "attributes": null }, { "code": "697919000", "description": "Pulmonary hypertension due to post-splenectomy hematological disorder (disorder)", "attributes": null }, { "code": "699208000", "description": "Thrombocytopenia caused by alcohol (disorder)", "attributes": null }, { "code": "69981004", "description": "Hereditary spherocytosis due to beta spectrin defect (disorder)", "attributes": null }, { "code": "700052007", "description": "Post-splenectomy sepsis (disorder)", "attributes": null }, { "code": "703135009", "description": "Anemia in malignant neoplastic disease (disorder)", "attributes": null }, { "code": "703148008", "description": "Periodontitis associated with chronic familial neutropenia (disorder)", "attributes": null }, { "code": "703280000", "description": "Hemosiderosis of lower limb due to venous insufficiency (disorder)", "attributes": null }, { "code": "703540008", "description": "Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder)", "attributes": null }, { "code": "707323002", "description": "Anemia co-occurrent and due to chronic kidney disease (disorder)", "attributes": null }, { "code": "707324008", "description": "Anemia co-occurrent and due to end stage renal disease (disorder)", "attributes": null }, { "code": "707480001", "description": "Chronic hemolytic anemia (disorder)", "attributes": null }, { "code": "709142003", "description": "Arthropathy due to sickle cell disease (disorder)", "attributes": null }, { "code": "709535007", "description": "Periodontitis co-occurrent with infantile genetic agranulocytosis (disorder)", "attributes": null }, { "code": "709608008", "description": "Periodontitis co-occurrent with acquired neutropenia (disorder)", "attributes": null }, { "code": "710926008", "description": "Periodontitis co-occurrent with familial neutropenia (disorder)", "attributes": null }, { "code": "710927004", "description": "Periodontitis co-occurrent with cyclical neutropenia (disorder)", "attributes": null }, { "code": "711407000", "description": "Thrombocytopathy, asplenia and miosis (disorder)", "attributes": null }, { "code": "712922002", "description": "Myosin heavy chain 9 non muscle related disease (disorder)", "attributes": null }, { "code": "713388002", "description": "GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)", "attributes": null }, { "code": "713508003", "description": "Aplastic anemia co-occurrent with human immunodeficiency virus infection (disorder)", "attributes": null }, { "code": "715342005", "description": "Alpha thalassemia X-linked intellectual disability syndrome (disorder)", "attributes": null }, { "code": "715526002", "description": "Dehydrated hereditary stomatocytosis (disorder)", "attributes": null }, { "code": "715559004", "description": "Combined deficiency of factor V and factor VIII (disorder)", "attributes": null }, { "code": "716336002", "description": "Congenital amegakaryocytic thrombocytopenia (disorder)", "attributes": null }, { "code": "716746003", "description": "Congenital alpha-2-antiplasmin deficiency (disorder)", "attributes": null }, { "code": "717050005", "description": "Autosomal recessive sideroblastic anemia (disorder)", "attributes": null }, { "code": "71723006", "description": "von Willebrand disease, type IIG (disorder)", "attributes": null }, { "code": "717254007", "description": "Familial pseudohyperkalemia (disorder)", "attributes": null }, { "code": "717407006", "description": "Congenital plasminogen activator inhibitor deficiency type 1 (disorder)", "attributes": null }, { "code": "717769007", "description": "MYH9 macrothrombocytopenia syndrome (disorder)", "attributes": null }, { "code": "717901001", "description": "Hypoparathyroidism due to hemochromatosis (disorder)", "attributes": null }, { "code": "717941005", "description": "Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder)", "attributes": null }, { "code": "718553004", "description": "White platelet syndrome (disorder)", "attributes": null }, { "code": "718554005", "description": "Medich giant platelet syndrome (disorder)", "attributes": null }, { "code": "718882006", "description": "X-linked severe congenital neutropenia (disorder)", "attributes": null }, { "code": "719019000", "description": "WT limb blood syndrome (disorder)", "attributes": null }, { "code": "719402008", "description": "Lethal hemolytic anemia and genital anomaly syndrome (disorder)", "attributes": null }, { "code": "719453009", "description": "Congenital dyserythropoietic anemia type IV (disorder)", "attributes": null }, { "code": "719816006", "description": "X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)", "attributes": null }, { "code": "71988008", "description": "Aase syndrome (disorder)", "attributes": null }, { "code": "719974003", "description": "Hemochromatosis type 3 (disorder)", "attributes": null }, { "code": "719975002", "description": "Autosomal dominant hereditary hemochromatosis (disorder)", "attributes": null }, { "code": "720465002", "description": "Adult-onset autosomal recessive sideroblastic anemia (disorder)", "attributes": null }, { "code": "720521008", "description": "Autosomal dominant macrothrombocytopenia (disorder)", "attributes": null }, { "code": "720950009", "description": "Familial thrombocytosis (disorder)", "attributes": null }, { "code": "721303001", "description": "Refractory neutropenia (disorder)", "attributes": null }, { "code": "721304007", "description": "Refractory thrombocytopenia (disorder)", "attributes": null }, { "code": "72161000119100", "description": "Antiphospholipid syndrome in pregnancy (disorder)", "attributes": null }, { "code": "721840000", "description": "Hyperuricemia, anemia, renal failure syndrome (disorder)", "attributes": null }, { "code": "722085003", "description": "Renal papillary necrosis due to sickle cell disease (disorder)", "attributes": null }, { "code": "722125003", "description": "Overhydrated hereditary stomatocytosis (disorder)", "attributes": null }, { "code": "722147003", "description": "Focal segmental glomerulosclerosis due to sickle cell disease (disorder)", "attributes": null }, { "code": "722207000", "description": "Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)", "attributes": null }, { "code": "722475006", "description": "X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)", "attributes": null }, { "code": "72331000119105", "description": "Thalassemia in mother complicating pregnancy (disorder)", "attributes": null }, { "code": "723512008", "description": "Revesz syndrome (disorder)", "attributes": null }, { "code": "723623002", "description": "Southeast Asian ovalocytosis (disorder)", "attributes": null }, { "code": "723829000", "description": "Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome (disorder)", "attributes": null }, { "code": "724138007", "description": "Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)", "attributes": null }, { "code": "724356003", "description": "Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)", "attributes": null }, { "code": "724639003", "description": "Asplenia following surgical procedure (disorder)", "attributes": null }, { "code": "724854007", "description": "Purpura of skin and or skin-associated mucous membrane co-occurrent and due to coagulation disorder (disorder)", "attributes": null }, { "code": "725034002", "description": "Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)", "attributes": null }, { "code": "725057008", "description": "Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder)", "attributes": null }, { "code": "725105006", "description": "Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder)", "attributes": null }, { "code": "725137007", "description": "Neutropenia, monocytopenia, deafness syndrome (disorder)", "attributes": null }, { "code": "725291001", "description": "Defect of purinergic receptor p2y G protein-coupled 12 (disorder)", "attributes": null }, { "code": "725463007", "description": "Severe congenital hypochromic anemia with ringed sideroblasts (disorder)", "attributes": null }, { "code": "73073009", "description": "Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder)", "attributes": null }, { "code": "73190000", "description": "epsilon gamma delta beta^0^ Thalassemia (disorder)", "attributes": null }, { "code": "733028000", "description": "Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)", "attributes": null }, { "code": "733064004", "description": "Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)", "attributes": null }, { "code": "734349003", "description": "Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)", "attributes": null }, { "code": "737221003", "description": "Congenital thrombocytopenia (disorder)", "attributes": null }, { "code": "737243006", "description": "Purpura of skin co-occurrent and due to vascular fragility (disorder)", "attributes": null }, { "code": "73975000", "description": "Factor II deficiency (disorder)", "attributes": null }, { "code": "74703006", "description": "Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)", "attributes": null }, { "code": "74789008", "description": "Coombs positive hemolytic anemia (disorder)", "attributes": null }, { "code": "74912001", "description": "Hereditary methemoglobinemia due to globin chain mutation (disorder)", "attributes": null }, { "code": "75063005", "description": "Hemoglobinopathy with erythrocytosis (disorder)", "attributes": null }, { "code": "75331009", "description": "Evans syndrome (disorder)", "attributes": null }, { "code": "75443009", "description": "Hereditary elliptocytosis due to abnormal protein 4.1 (disorder)", "attributes": null }, { "code": "763096004", "description": "Disorder of liver due to sickle cell disease (disorder)", "attributes": null }, { "code": "76336008", "description": "Delta beta zero thalassemia (disorder)", "attributes": null }, { "code": "76407009", "description": "Protein C deficiency disease (disorder)", "attributes": null }, { "code": "765327005", "description": "Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)", "attributes": null }, { "code": "765977002", "description": "Bleeding disorder due to glycoprotein VI deficiency (disorder)", "attributes": null }, { "code": "76642003", "description": "Factor X deficiency (disorder)", "attributes": null }, { "code": "766982000", "description": "Hemolytic anemia due to adenylate kinase deficiency (disorder)", "attributes": null }, { "code": "767497003", "description": "Autosomal recessive congenital methemoglobinemia (disorder)", "attributes": null }, { "code": "767498008", "description": "Autosomal recessive congenital methemoglobinemia type II (disorder)", "attributes": null }, { "code": "767499000", "description": "Autosomal recessive congenital methemoglobinemia type I (disorder)", "attributes": null }, { "code": "767712006", "description": "Factor IX deficiency (disorder)", "attributes": null }, { "code": "767713001", "description": "Factor XI deficiency (disorder)", "attributes": null }, { "code": "768556005", "description": "Ataxia pancytopenia syndrome (disorder)", "attributes": null }, { "code": "769167005", "description": "Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder)", "attributes": null }, { "code": "770407006", "description": "Chuvash erythrocytosis (disorder)", "attributes": null }, { "code": "770942003", "description": "Kostmann syndrome (disorder)", "attributes": null }, { "code": "770947009", "description": "Autosomal dominant severe congenital neutropenia (disorder)", "attributes": null }, { "code": "771075004", "description": "Macrothrombocytopenia with mitral valve insufficiency (disorder)", "attributes": null }, { "code": "773422002", "description": "East Texas bleeding disorder (disorder)", "attributes": null }, { "code": "773489008", "description": "Hereditary cryohydrocytosis with normal stomatin (disorder)", "attributes": null }, { "code": "774071007", "description": "Pancytopenia with developmental delay syndrome (disorder)", "attributes": null }, { "code": "774084003", "description": "Neonatal antiphospholipid syndrome (disorder)", "attributes": null }, { "code": "77413008", "description": "Severe hereditary spherocytosis due to spectrin deficiency (disorder)", "attributes": null }, { "code": "775909002", "description": "Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)", "attributes": null }, { "code": "7772007", "description": "Erythropoietic hemochromatosis (disorder)", "attributes": null }, { "code": "778006008", "description": "Autosomal dominant aplasia and myelodysplasia (disorder)", "attributes": null }, { "code": "782759001", "description": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)", "attributes": null }, { "code": "782880001", "description": "Hemoglobinopathy Toms River (disorder)", "attributes": null }, { "code": "782909004", "description": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder)", "attributes": null }, { "code": "782911008", "description": "Hereditary cryohydrocytosis with reduced stomatin (disorder)", "attributes": null }, { "code": "782934004", "description": "Bleeding diathesis due to collagen receptor defect (disorder)", "attributes": null }, { "code": "783058007", "description": "Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)", "attributes": null }, { "code": "783194008", "description": "Bleeding diathesis due to thromboxane synthesis deficiency (disorder)", "attributes": null }, { "code": "783199003", "description": "Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)", "attributes": null }, { "code": "783200000", "description": "Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder)", "attributes": null }, { "code": "783201001", "description": "Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)", "attributes": null }, { "code": "783202008", "description": "Autosomal dominant secondary polycythemia (disorder)", "attributes": null }, { "code": "783250007", "description": "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)", "attributes": null }, { "code": "783251006", "description": "Hereditary thrombocytopenia with normal platelets (disorder)", "attributes": null }, { "code": "783254003", "description": "Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome (disorder)", "attributes": null }, { "code": "783255002", "description": "Hereditary isolated aplastic anemia (disorder)", "attributes": null }, { "code": "783256001", "description": "Familial thrombomodulin anomalies (disorder)", "attributes": null }, { "code": "78345002", "description": "Thrombocytopenia due to diminished platelet production (disorder)", "attributes": null }, { "code": "784392009", "description": "Adult chronic idiopathic neutropenia (disorder)", "attributes": null }, { "code": "785308008", "description": "Acquired hemophilia (disorder)", "attributes": null }, { "code": "788865000", "description": "Anemia due to chronic infectious disease (disorder)", "attributes": null }, { "code": "788944005", "description": "Gamma delta beta thalassemia (disorder)", "attributes": null }, { "code": "78908001", "description": "Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder)", "attributes": null }, { "code": "80141007", "description": "Hemoglobinopathy (disorder)", "attributes": null }, { "code": "80813006", "description": "Hemophilic arthropathy (disorder)", "attributes": null }, { "code": "80963002", "description": "Glucose-6-phosphate dehydrogenase deficiency class V variant anemia (disorder)", "attributes": null }, { "code": "81783000", "description": "Familial multiple factor deficiency syndrome (disorder)", "attributes": null }, { "code": "82003006", "description": "Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia (disorder)", "attributes": null }, { "code": "8209004", "description": "Dilated cardiomyopathy secondary to hemochromatosis (disorder)", "attributes": null }, { "code": "82190001", "description": "Thrombocytopenia due to defective platelet production (disorder)", "attributes": null }, { "code": "82893001", "description": "Splenic atrophy (disorder)", "attributes": null }, { "code": "838361004", "description": "Arthropathy due to hemochromatosis (disorder)", "attributes": null }, { "code": "84048006", "description": "Familial multiple factor deficiency syndrome, type I (disorder)", "attributes": null }, { "code": "84188003", "description": "Thalassemia syndrome (disorder)", "attributes": null }, { "code": "84260001", "description": "Hemoglobinopathy with cyanosis (disorder)", "attributes": null }, { "code": "85422000", "description": "alpha^+^ Thalassemia, nondeletion type (disorder)", "attributes": null }, { "code": "860725002", "description": "Low von Willebrand factor (disorder)", "attributes": null }, { "code": "86075001", "description": "Coagulation factor deficiency syndrome (disorder)", "attributes": null }, { "code": "86242003", "description": "alpha^+^ Thalassemia, deletion type (disorder)", "attributes": null }, { "code": "86325007", "description": "Non megaloblastic anemia due to alcoholism (disorder)", "attributes": null }, { "code": "86859003", "description": "Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)", "attributes": null }, { "code": "87397002", "description": "von Willebrand disease, type IIA (disorder)", "attributes": null }, { "code": "87902006", "description": "Thrombocytopenia due to non-immune destruction (disorder)", "attributes": null }, { "code": "87994004", "description": "Xerocytosis (disorder)", "attributes": null }, { "code": "88540000", "description": "Factor XI deficiency, type I (disorder)", "attributes": null }, { "code": "8857001", "description": "Hereditary elliptocytosis due to alpha spectrin defect (disorder)", "attributes": null }, { "code": "88776002", "description": "Hereditary factor V deficiency disease (disorder)", "attributes": null }, { "code": "88854002", "description": "Congenital hypoplastic anemia (disorder)", "attributes": null }, { "code": "89112009", "description": "Aregenerative anemia (disorder)", "attributes": null }, { "code": "89454001", "description": "Shwachman syndrome (disorder)", "attributes": null }, { "code": "89459006", "description": "Hereditary persistence of fetal hemoglobin linked to beta-globulin gene cluster (disorder)", "attributes": null }, { "code": "89655007", "description": "Congenital neutropenia (disorder)", "attributes": null }, { "code": "89729000", "description": "Factor IX inhibitor disorder (disorder)", "attributes": null }, { "code": "89810003", "description": "^A^gamma delta beta^0^ thalassemia (disorder)", "attributes": null }, { "code": "90175006", "description": "Secondary acquired sideroblastic anemia (disorder)", "attributes": null }, { "code": "90501009", "description": "Erythrocytosis due to defective oxygen transport (disorder)", "attributes": null }, { "code": "90935002", "description": "Hemophilia (disorder)", "attributes": null }, { "code": "9417000", "description": "Platelet dense granule deficiency (disorder)", "attributes": null }, { "code": "9434008", "description": "Hereditary pyropoikilocytosis (disorder)", "attributes": null }, { "code": "9489006", "description": "Factor X inhibitor disorder (disorder)", "attributes": null }, { "code": "95839005", "description": "Disorder involving the fibrinolytic system (disorder)", "attributes": null }, { "code": "95840007", "description": "Hypoplasminogenemia (disorder)", "attributes": null }, { "code": "95841006", "description": "Hereditary hypoplasminogenemia (disorder)", "attributes": null }, { "code": "95842004", "description": "Autosomal dominant deficiency of plasminogen (disorder)", "attributes": null }, { "code": "95844003", "description": "Dysplasminogenemia (disorder)", "attributes": null }, { "code": "95845002", "description": "Hereditary dysplasminogenemia (disorder)", "attributes": null }, { "code": "97571000119109", "description": "Thrombocytopenia co-occurrent and due to alcoholism (disorder)", "attributes": null }, { "code": "9764001", "description": "Anemia caused by radiation (disorder)", "attributes": null } ] } ], "status": 1, "doi": "https://doi.org/10.48533/qhvx-zf71", "is_deleted": false, "publish_status": 2, "owner": "farrellj", "template": { "id": 1, "name": "Clinical-Coded Phenotype", "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.", "version_id": 1 }, "versions": [ { "version_id": 3630, "version_name": "Chronic paediatric conditions: Non-malignant haematological", "version_date": "2025-01-19T16:17:21.987919Z", "is_published": true, "is_latest": true } ] } ]