Transcobalamin II Deficiency

Preferred Label : Transcobalamin II Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TCN2 gene, encoding transcobalamin-2. it is characterized by failure to thrive, megaloblastic anemia, and pancytopenia.;

Codes from synonyms : D51.2;

Details

Origin ID

C142806;

UMLS CUI

C0342701;

Currated CISMeF NLP mapping
- Hereditary megaloblastic anaemia due to transcobalamin deficiency [ICD-11 More detail]
- 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)
- Hereditary megaloblastic anaemia due to transcobalamin deficiency [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Deficiency Anemia Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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