transcobalamin I deficiency

Preferred Label : transcobalamin I deficiency;

MeSH synonym : cobalamin pseudodeficiency due to transcobalamin deficiency; cobalamin R binder protein deficiency; transcobalamin I deficiency with lactoferrin deficiency;

Details

Origin ID

C562798;

UMLS CUI

C0342700;

Currated CISMeF NLP mapping
- Haptocorrin deficiency [ICD-11 More detail]
- Transcobalamin I deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- metabolism, inborn errors [MeSH Descriptor]
- transcobalamins [MeSH Descriptor]
Record concept(s)
- transcobalamin I deficiency [MeSH concept]
See also inter- (CISMeF)
- Transcobalamin II deficiency [OMIM Phenotype]
- Transcobalamin II deficiency [ICD-10 Sub-category (who)]
- Transcobalamin II deficiency [ICD-10 Sub-category]
- Transcobalamin II deficiency (disorder) [SNOMED CT concept]
- transcobalamin II deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Transcobalamin I deficiency [OMIM Phenotype]
- Transcobalamin I deficiency [ORDO Disease]
- Transcobalamin I deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Transcobalamin I deficiency [OMIM Phenotype]
- Transcobalamin I deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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