Alpha-Methylacyl-CoA Racemase Deficiency

Preferred Label : Alpha-Methylacyl-CoA Racemase Deficiency;

NCIt synonyms : AMACR;

NCIt definition : A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy.;

Details

Origin ID

C119677;

UMLS CUI

C3280428;

Automatic exact mappings (from CISMeF team)
- Alpha-methylacyl-coa racemase [OMIM gene]
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
- alpha-methylacyl-CoA racemase [ORDO Gene]
Currated CISMeF NLP mapping
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH concept]
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder) [SNOMED CT concept]
- Alpha-methylacyl-coa racemase deficiency [OMIM Phenotype]
- alpha-methylacyl-CoA racemase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH concept]
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder) [SNOMED CT concept]
- Alpha-methylacyl-coa racemase deficiency [OMIM Phenotype]
- alpha-methylacyl-CoA racemase deficiency [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AMACR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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