hnsha due to hexokinase deficiency - CISMeF

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CISMeF

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Hnsha due to hexokinase deficiencySNOMED Notion

Preferred Label : hnsha due to hexokinase deficiency;

Details

Origin ID

DC-17140;

UMLS CUI

C0272063;

Automatic exact mappings (from CISMeF team)
- Hexokinase deficiency anaemia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Anemia, congenital, nonspherocytic hemolytic, 5 [OMIM Phenotype]
- Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) [SNOMED CT concept]
- Non-spherocytic hemolytic anemia due to hexokinase deficiency [ORDO Disease]
- Nonspherocytic haemolytic anaemia due to hexokinase deficiency [ICD-11 More detail]
ICD-10 exact mapping(s)
- Anaemia due to disorders of glycolytic enzymes [ICD-10 Sub-category (who)]
Metaterm(s)
- hematology [CISMeF Metaterm]
SNOMED CT concept
- Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder) [SNOMED CT concept]
- Hexokinase deficiency anaemia [MedDRA Preferred Term]
- Hexokinase deficiency anemia [MedDRA LLT]
Validated automatic mappings to NTBT
- Anaemia due to disorders of glycolytic enzymes [ICD-10 Sub-category (who)]

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01/05/2025

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