Carnosinemia - CISMeF

Preferred Label : Carnosinemia;

NCIt synonyms : Carnosinase Deficiency;

NCIt definition : A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures.;

Details

Origin ID

C125661;

UMLS CUI

C3495555;

Automatic exact mappings (from CISMeF team)
- aminoacyl-histidine dipeptidase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Carnosinaemia [ICD-11 Sub-sub category]
- Carnosinase deficiency [ORDO Disease]
- Carnosinemia [PASCAL descriptor]
- Carnosinemia [OMIM Phenotype]
- Carnosinemia (disorder) [SNOMED CT concept]
- carnosinase deficiency [MeSH concept]
- carnosinemia [MeSH concept]
See also inter- (CISMeF)
- Deficiency of carnosinase (disorder) [SNOMED CT concept]
- homocarnosinosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnosinaemia [ICD-11 Sub-sub category]
- Carnosinemia [OMIM Phenotype]
- Carnosinemia (disorder) [SNOMED CT concept]
- carnosinemia [MeSH concept]
Validated automatic mappings to NTBT
- Disorder of aromatic amino acid metabolism (disorder) [SNOMED CT 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
- CNDP1 Gene [NCIt concept]

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