Rare inherited anaemia codes
Codelist metadata
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Coding system
- SNOMED CT
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Coding system release
- 39.2.0
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Organisation
- NHSD Primary Care Domain Refsets
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Codelist ID
- nhsd-primary-care-domain-refsets/rare-inherited-anaemia-codes
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Version Tag
- 20241205
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Version ID
- 615da222
Versions
About
Description
Taken from the RIA_COD refset published by NHSD.
Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.
We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.
| code | term |
|---|---|
| 1010397000 | Severe deficiency of glucose-6-phosphate dehydrogenase |
| 10564005 | Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin |
| 10759351000119103 | Sickle cell anemia in mother complicating childbirth |
| 109998009 | Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia |
| 111407006 | Hemolytic uremic syndrome |
| 111576004 | Acquired stomatocytosis |
| 1144979004 | Disorder of glomerulus due to hemolytic uremic syndrome |
| 1148914007 | Autosomal dominant sideroblastic anemia |
| 1153399000 | Homozygous hereditary elliptocytosis |
| 1153413001 | Acute sequestration of spleen due to sickle cell thalassemia with crisis |
| 1153414007 | Acute chest syndrome due to sickle cell hemoglobin C disease with crisis |
| 1153415008 | Acute sequestration of spleen due to sickle cell hemoglobin C disease with crisis |
| 118791000119106 | Aplastic anemia caused by antineoplastic agent |
| 123308008 | Hemolytic uremic syndrome |
| 1237349008 | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome |
| 1239371000000103 | Haemoglobin E beta zero thalassaemia |
| 124134002 | Deficiency of glucose-6-phosphate dehydrogenase |
| 124331002 | Deficiency of pyruvate kinase |
| 1260268001 | Myelodysplastic syndrome with low blasts |
| 1260270005 | Hypoplastic myelodysplastic syndrome |
| 1269225005 | Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency |
| 1269270002 | Infection-related hemolytic uremic syndrome |
| 127041004 | Sickle cell-beta-thalassemia |
| 127042006 | Sickle cell beta plus thalassemia |
| 127043001 | Sickle cell-beta^0^-thalassemia |
| 127044007 | Sickle cell-delta beta^0^-thalassemia |
| 127045008 | Sickle cell anemia with coexistent alpha-thalassemia |
| 127047000 | Sickle cell-hemoglobin Lepore disease |
| 127048005 | Sickle cell-Hemoglobin O Arab disease |
| 1285021005 | Fanconi anemia of complementation group C |
| 1285514002 | Nonproliferative retinopathy due to sickle cell disease |
| 14024008 | Humoral immunologic aplastic anemia |
| 14087004 | Hereditary stomatocytosis |
| 14126008 | Autosomal-linked pyridoxine refractory sideroblastic anemia |
| 15121005 | Hereditary elliptocytosis due to glycophorin C deficiency |
| 154795009 | Hereditary spherocytosis |
| 154801000 | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) |
| 154807001 | Anaemia: [aplastic and other] or [aplastic] or [hypoblastic] |
| 154808006 | Constitutional aplastic anaemia |
| 154809003 | Acquired aplastic anaemia |
| 154810008 | Sideroblastic anaemia |
| 178935009 | Congenital elliptocytosis |
| 188588001 | Adenosine deaminase superactivity |
| 189510008 | Refractory anemia with sideroblasts |
| 191169008 | Hereditary elliptocytosis |
| 191171008 | Glucose-6-phosphate dehydrogenase deficiency anemia |
| 191178002 | Hemolytic anemia due to pyruvate kinase deficiency |
| 191184004 | Thalassemia minor NEC |
| 191189009 | Beta thalassemia intermedia |
| 191190000 | Beta thalassaemia: (& minor) |
| 191195005 | Sickle cell anemia of unspecified type |
| 191196006 | Sickle cell anemia with no crisis |
| 191197002 | Sickle cell anemia with crisis |
| 191199004 | Sickle cell anemia NOS |
| 191228007 | Acquired spherocytosis |
| 191233006 | Aplastic anaemia |
| 191235004 | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) |
| 191236003 | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] |
| 191238002 | (Constitutional aplastic anaemia with malformation) or (pancytopenia - dysmelia) |
| 191241006 | Other specified constitutional aplastic anemia |
| 191242004 | Constitutional aplastic anemia NOS |
| 191243009 | Anaemia: [acquired aplastic] or [normocytic due to aplasia] |
| 191244003 | Aplastic anemia due to chronic disease |
| 191245002 | Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] |
| 191246001 | Aplastic anemia due to infection |
| 191247005 | Aplastic anemia caused by radiation |
| 191248000 | Aplastic anemia caused by toxic cause |
| 191253005 | Anaemia: [acquired aplastic NOS] or [acquired pure red cell aplasia] or [red cell hypoplasia] or [secondary red cell aplasia or hypoplasia NEC] |
| 191256002 | Idiopathic aplastic anemia |
| 191258001 | Aplastic anemia NOS |
| 191260004 | Pyridoxine-responsive sideroblastic anemia |
| 191261000 | Secondary sideroblastic anemia due to disease |
| 191262007 | Secondary sideroblastic anemia caused by drugs and toxins |
| 191263002 | Sideroblastic anemia NOS |
| 191272005 | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] |
| 191274006 | Congenital dyserythropoietic anaemia type II |
| 191419008 | [X]Other sickle cell disorders |
| 191427004 | [X]Other specified aplastic anemias |
| 191429001 | [X]Other sideroblastic anemias |
| 206439006 | Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency |
| 21412009 | X chromosome-linked pyridoxine refractory sideroblastic anemia |
| 21976009 | Hemoglobin S disease without crisis |
| 22933009 | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia |
| 232033003 | Sickle cell-hemoglobin C retinopathy |
| 23269001 | Double heterozygous sickling disorder |
| 23371004 | Epsilon gamma delta beta thalassemia |
| 234355002 | Congenital dyserythropoiesis NEC |
| 234366009 | Alcohol-related sideroblastic anemia |
| 234368005 | Constitutional aplastic anemia without mention of malformation |
| 234391009 | Sickle cell anemia with high hemoglobin F |
| 234410008 | Hereditary elliptocytosis with transient poikilocytosis |
| 236468006 | Adult Fanconi syndrome |
| 237926007 | Glutathione synthase deficiency without 5-oxoprolinuria |
| 237985009 | Pearson's syndrome |
| 240486003 | Parvoviral aplastic crisis |
| 24661004 | Glucose-6-phosphate dehydrogenase deficiency class III variant anemia |
| 25266006 | Hereditary spherocytosis due to spectrin deficiency |
| 25443007 | X chromosome-linked pyridoxine responsive sideroblastic anemia |
| 25472008 | Sickle cell-hemoglobin D disease |
| 26409005 | Congenital dyserythropoietic anemia, type III |
| 267523003 | Constitutional aplastic anemia |
| 267524009 | Constitutional aplastic anemia with malformation |
| 267526006 | Acquired aplastic anemia |
| 267527002 | Aplastic anemia due to drugs |
| 267529004 | Acquired aplastic anemia NOS |
| 267558001 | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) |
| 267560004 | Anaemia: [aplastic and other] or [aplastic] or [hypoblastic] |
| 274546009 | [EDTA] Hemolytic uremic syndrome including Moschcowitz syndrome associated with renal failure |
| 275523003 | Pancytopenia-dysmelia |
| 276448005 | Idiopathic sideroblastic anemia |
| 28975000 | Constitutional aplastic anemia |
| 2966007 | Aplastic anemia secondary to radiation |
| 305047005 | Aplastic anemia |
| 30575002 | Fanconi's anemia |
| 306058006 | Aplastic anemia |
| 307343001 | Acquired hemoglobin H disease |
| 31779001 | Aplastic anemia secondary to pancreatitis |
| 33905008 | Hereditary spherocytosis due to deficiency of protein 4.2 |
| 34852006 | Glucose-6-phosphate dehydrogenase deficiency class II variant anemia |
| 351181000119103 | Anemia due to enzymopathy |
| 35434009 | Sickle cell-hemoglobin C disease |
| 36472007 | Sickle cell-thalassemia disease |
| 36568005 | Hemolytic uremic syndrome of childhood |
| 373420004 | Upshaw-Schulman syndrome |
| 373421000 | Diarrhea-associated hemolytic uremic syndrome |
| 373422007 | Diarrhea-negative hemolytic uremic syndrome |
| 413564005 | Aplastic anemia associated with infection |
| 413565006 | Aplastic anemia associated with metabolic alteration |
| 413566007 | Aplastic anemia associated with pancreatitis |
| 413567003 | Aplastic anemia associated with pregnancy |
| 416214006 | Sickle cell-hemoglobin D disease without crisis |
| 416290001 | Hemoglobin S sickling disorder without crisis |
| 416484003 | Sickle cell-hemoglobin E disease with crisis |
| 416638004 | Sickle cell-hemoglobin E disease without crisis |
| 416826005 | Sickle cell-thalassemia disease with crisis |
| 417048006 | Sickle cell-thalassemia disease without crisis |
| 417250005 | Bone marrow granulocytic aplasia |
| 417279003 | Hemoglobin S sickling disorder with crisis |
| 417357006 | Sickling disorder due to hemoglobin S |
| 417517009 | Sickle cell-hemoglobin C disease with crisis |
| 417683006 | Sickle cell-hemoglobin C disease without crisis |
| 417748003 | Sickle cell-hemoglobin D disease with crisis |
| 41841004 | Sideroblastic anemia |
| 421102007 | Aplastic anemia with acquired immunodeficiency syndrome |
| 429208004 | History of aplastic anemia |
| 430571000000104 | [X]Other sideroblastic anaemias |
| 43858000 | Secondary aplastic anemia |
| 441586006 | History of Fanconi anemia |
| 441638006 | History of Diamond-Blackfan anemia |
| 444108000 | Acute sickle cell splenic sequestration crisis |
| 444976001 | Congenital hemolytic uremic syndrome |
| 450011000000103 | [X]Other specified aplastic anaemias |
| 455791000000104 | [X]Other sickle cell disorders |
| 46760003 | Estren-Dameshek anemia |
| 47024008 | Sickle cell-hemoglobin E disease |
| 47047009 | Thalassemia with other hemoglobinopathy |
| 47226002 | Aplastic anemia secondary to pregnancy |
| 47516005 | Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin |
| 48553001 | Hemoglobin H disease |
| 48983004 | X chromosome-linked sideroblastic anemia |
| 49155007 | Aplastic anemia secondary to chemicals |
| 50220002 | Cellular immunologic aplastic anemia |
| 519711000000107 | Congenital haemolytic uraemic syndrome |
| 52951008 | Congenital dyserythropoietic anemia |
| 531991000000108 | Constitutional aplastic anemia without mention of malformation |
| 55907008 | Acquired aplastic anemia |
| 55995005 | Hereditary spherocytosis |
| 571271000000103 | Thalassemia minor NEC |
| 571281000000101 | Sickle cell anemia of unspecified type |
| 58864003 | Hereditary elliptocytosis |
| 589271000000105 | Aplastic anemia NOS |
| 589291000000109 | Sideroblastic anemia NOS |
| 59548005 | Congenital dyserythropoietic anemia, type I |
| 5967006 | A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis |
| 5994005 | Hereditary elliptocytosis due to deficiency of protein 4.1 |
| 606981000000103 | Other specified constitutional aplastic anemia |
| 610681000000109 | Constitutional aplastic anemia NOS |
| 62403005 | Glucose-6-phosphate dehydrogenase deficiency anemia |
| 62677000 | Hereditary sideroblastic anemia |
| 643151000000105 | Acquired aplastic anemia NOS |
| 656501000000106 | Congenital dyserythropoiesis NEC |
| 660631000000106 | Sickle cell anemia NOS |
| 66262001 | Hereditary elliptocytosis due to beta spectrin-ankyrin interaction |
| 67105003 | Aplastic anemia secondary to chronic systemic disease |
| 68870007 | Congenital dyserythropoietic anemia, type II |
| 68875002 | Thalassemia minor |
| 69336006 | Aplastic anemia secondary to metabolic alteration |
| 69981004 | Hereditary spherocytosis due to beta spectrin defect |
| 703540008 | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis |
| 713508003 | Aplastic anemia co-occurrent with human immunodeficiency virus infection |
| 715526002 | Dehydrated hereditary stomatocytosis |
| 716682000 | Dominant beta-thalassemia |
| 717050005 | Autosomal recessive sideroblastic anemia |
| 718196002 | Beta thalassemia X-linked thrombocytopenia syndrome |
| 719019000 | WT limb blood syndrome |
| 719453009 | Congenital dyserythropoietic anemia type IV |
| 719816006 | X-linked sideroblastic anemia with spinocerebellar ataxia |
| 720465002 | Adult-onset autosomal recessive sideroblastic anemia |
| 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
| 722125003 | Overhydrated hereditary stomatocytosis |
| 722207000 | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome |
| 722475006 | X-linked congenital dyserythropoietic anemia with thrombocytopenia |
| 722721004 | Familial hemolytic uremic syndrome |
| 72279006 | Hemoglobin S disease with crisis |
| 723512008 | Revesz syndrome |
| 723623002 | Southeast Asian ovalocytosis |
| 724099000 | Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome |
| 724138007 | Mitochondrial myopathy with sideroblastic anemia syndrome |
| 725463007 | Severe congenital hypochromic anemia with ringed sideroblasts |
| 73073009 | Hereditary elliptocytosis due to beta spectrin defect in self-association |
| 73190000 | Epsilon gamma delta beta^0^ thalassemia |
| 74703006 | Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency |
| 75443009 | Hereditary elliptocytosis due to abnormal protein 4.1 |
| 765327005 | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome |
| 77084001 | Immunologic aplastic anemia |
| 773489008 | Hereditary cryohydrocytosis with normal stomatin |
| 774071007 | Pancytopenia with developmental delay syndrome |
| 77413008 | Severe hereditary spherocytosis due to spectrin deficiency |
| 77607006 | Drug-induced sideroblastic anemia |
| 778006008 | Autosomal dominant aplasia and myelodysplasia |
| 78209002 | Hemolytic uremic syndrome, adult type |
| 782759001 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
| 782911008 | Hereditary cryohydrocytosis with reduced stomatin |
| 783254003 | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome |
| 783255002 | Hereditary isolated aplastic anemia |
| 789660001 | Atypical hemolytic uremic syndrome |
| 79000000 | Aplastic anemia |
| 83153007 | Aplastic anemia secondary to infection |
| 83659007 | AIDS with aplastic anemia |
| 857431000000107 | Adult Fanconi syndrome |
| 86859003 | Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia |
| 8857001 | Hereditary elliptocytosis due to alpha spectrin defect |
| 89112009 | Aregenerative anemia |
| 89810003 | ^A^gamma delta beta^0^ thalassemia |
| 90175006 | Secondary acquired sideroblastic anemia |
| 9043005 | Aplastic anemia secondary to drugs |
| 934007 | Thalassemia intermedia |
Codes not in the full codelist are in faint grey.