Thalassaemias - CISMeF

ICD-11 code : 3A50;

Preferred Label : Thalassaemias;

ICD-11 definition : A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.;

ICD-11 synonym : thalassaemia NOS; haemoglobin thalassaemia disorder; hereditary leptocytosis; thalassaemia syndrome;

ICD-11 inclusion : Thalassaemia minor; thalassaemia anaemia; Rietti-Greppi-Micheli anaemia; microelliptopoikilocytic anaemia; Thalassaemia with other haemoglobinopathy; mixed thalassaemia;

ICD-11 "other" category code : 3A50.Y;

ICD-11 "unspecified" category code : 3A50.Z;

Details

Origin ID

330259189;

Automatic exact mappings (from CISMeF team)
- Hereditary haemolytic anaemia [ICPC-3 diagnosis]
- Thalassemia syndrome (disorder) [SNOMED CT concept]
- hereditary haemolytic anaemia [ICPC-2 Rubric]
- thalassemia syndrome, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Imbalanced hemoglobin synthesis [HPO term]
- Thalassaemia [MedDRA Preferred Term]
- Thalassaemia NOS [MedDRA LLT]
- Thalassemia [NCIt concept]
- Thalassemia [PASCAL descriptor]
- Thalassemia [MedDRA LLT]
- Thalassemia [ICD-10 category]
- Thalassemia (disorder) [SNOMED CT concept]
- Thalassemias [ICD-9 code]
- thalassemia [Radlex concept]
- thalassemia [MeSH concept]
- thalassemia [MedlinePlus Topic]
- thalassemia [MeSH Descriptor]
- thalassemia [Blood Transfusion thesaurus concept]
- thalassemia, nos [SNOMED Notion]
ICD-10 Mapping
- Thalassemia [ICD-10 category]

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