Hereditary persistence of fetal haemoglobin

ICD-11 code : 3A50.4;

Preferred Label : Hereditary persistence of fetal haemoglobin;

ICD-11 definition : Hereditary persistence of fetal haemoglobin (HPFH) associated with beta-thalassaemia is a haemoglobinopathy characterised by high haemoglobin (Hb)F levels and an increased number of fetal-Hb-containing-cells. The association of HPFH with beta-thalassaemia mitigates the clinical manifestations which vary from a normal state to beta-thalassaemia intermedia.;

ICD-11 synonym : HPFH - [Hereditary persistence of fetal haemoglobin]; Hereditary persistence of fetal haemoglobin; fetal haemoglobin;

ICD-11 acronym : HPFH;

ICD-11 inclusion : persistence of fetal haemoglobin; persistent haemoglobin;

Details

Origin ID

418601307;

UMLS CUI

C0019025;

Automatic exact mappings (from CISMeF team)
- Fetal hemoglobin [MedDRA LLT]
- Fetal hemoglobin quantitative trait locus 1 [OMIM Phenotype]
- Foetal haemoglobin [MedDRA Preferred Term]
- Hemoglobin F [FMA entity]
- Hemoglobin F [LOINC component]
- Hemoglobin F (substance) [SNOMED CT concept]
- Hereditary Persistence of Fetal Hemoglobin [NCIt concept]
- Hereditary persistence of fetal hemoglobin thalassemia (disorder) [SNOMED CT concept]
- beta-Thalassemia [MeSH Descriptor]
- fetal hemoglobin [MeSH concept]
- fetal hemoglobin [MeSH Descriptor]
- hemoglobin f [SNOMED Notion]
- hereditary persistence of fetal hemoglobin thalassemia, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Hereditary persistence of fetal hemoglobin [PASCAL descriptor]
- Hereditary persistence of fetal hemoglobin (disorder) [SNOMED CT concept]
ICD-10 Mapping
- Hereditary persistence of fetal hemoglobin [HPFH] [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Persistence of Fetal Hemoglobin [NCIt concept]
- Hereditary persistence of fetal hemoglobin [PASCAL descriptor]
- Hereditary persistence of fetal hemoglobin [MedDRA LLT]
- Hereditary persistence of fetal hemoglobin (disorder) [SNOMED CT concept]
- Hereditary persistence of fetal hemoglobin [HPFH] [ICD-10 Sub-category]
- Hereditary persistence of foetal haemoglobin [MedDRA Preferred Term]
- hemoglobin F disease [MeSH concept]
- hereditary persistence of fetal hemoglobin [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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