Methylmalonic Aciduria and Homocystinuria, cblC Type

Preferred Label : Methylmalonic Aciduria and Homocystinuria, cblC Type;

NCIt definition : An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMACHC gene, encoding methylmalonic aciduria and homocystinuria type C protein.;

Details

Origin ID

C142174;

UMLS CUI

C1848561;

Currated CISMeF NLP mapping
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
- cobalamin c disease [SNOMED Notion]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
- cobalamin c disease [SNOMED Notion]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Validated automatic mappings to NTBT
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMACHC Gene [NCIt concept]

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