Hereditary megaloblastic anaemia due to transcobalamin deficiency

Preferred Label : Hereditary megaloblastic anaemia due to transcobalamin deficiency;

ICD-11 definition : A disease caused by defective intestinal absorption of vitamin B12 due to autosomal recessive genetic mutation. This disease may present with vomiting, poor growth, infections due to hypogammaglobulinemia, or megaloblastic anaemia.;

ICD-11 synonym : transcobalamin II deficiency; Congenital megaloblastic anaemia due to transcobalamin II deficiency; transcobalamin deficiency; TCN2 - [transcobalamin II deficiency];

ICD-11 acronym : TCN2;

ICD-11 inclusion : transcobalamin II deficiency anaemia;

Details

Origin ID

892302875;

UMLS CUI

C0342701;

Automatic exact mappings (from CISMeF team)
- Transcobalamin II [OMIM gene]
- Transcobalamin deficiency [MedDRA Preferred Term]
- transcobalamin 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Transcobalamin II Deficiency [NCIt concept]
- Transcobalamin II deficiency [OMIM Phenotype]
- Transcobalamin II deficiency [ICD-10 Sub-category]
- Transcobalamin II deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]
- transcobalamin II deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Transcobalamin II Deficiency [NCIt concept]
- Transcobalamin II deficiency [ICD-10 Sub-category]
- Transcobalamin II deficiency [OMIM Phenotype]
- Transcobalamin II deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]
- transcobalamin II deficiency [DO Concept]
Validated automatic mappings to BTNT
- Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) [SNOMED CT concept]

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