Methylmalonic Acidemia

Preferred Label : Methylmalonic Acidemia;

NCIt synonyms : Methylmalonic Aciduria;

NCIt definition : A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.;

Details

Origin ID

C98986;

UMLS CUI

C0268583;

Currated CISMeF NLP mapping
- Methylmalonic Aciduria [MeSH concept]
- Methylmalonic acidemia [MeSH concept]
- Methylmalonic acidemia [HPO term]
- Methylmalonic acidemia (disorder) [SNOMED CT concept]
- Methylmalonic aciduria [HPO term]
- Methylmalonic aciduria [ICD-11 More detail]
- Methylmalonic aciduria [MedDRA Preferred Term]
- methylmalonic acidemia [MeSH Supplementary Concept]
- methylmalonic acidemia [DO Concept]
- methylmalonic acidemia [Disease (Nov.)]
- methylmalonic acidemia, nos [SNOMED Notion]
See also inter- (CISMeF)
- Methylmalonic Aciduria [MeSH concept]
- Methylmalonic aciduria [MedDRA Preferred Term]
- methylmalonic acid [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic acidaemia [MedDRA Preferred Term]
- Methylmalonic acidemia [MeSH concept]
- Methylmalonic acidemia [HPO term]
- Methylmalonic acidemia [MedDRA LLT]
- Methylmalonic acidemia (disorder) [SNOMED CT concept]
- methylmalonic acidemia [MeSH Supplementary Concept]
- methylmalonic acidemia [DO Concept]
- methylmalonic acidemia [Disease (Nov.)]
- methylmalonic acidemia, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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