Methylmalonic Aciduria and Homocystinuria, cblD Type

Preferred Label : Methylmalonic Aciduria and Homocystinuria, cblD Type;

NCIt synonyms : MAHCD;

NCIt definition : An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMADHC gene, encoding cobalamin trafficking protein CblD.;

Details

Origin ID

C183524;

UMLS CUI

C1848552;

Currated CISMeF NLP mapping
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl D [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cbld type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl D [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cbld type [OMIM Phenotype]
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ORDO Disease]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMADHC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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