Carnosinemia - CISMeF

Preferred Label : Carnosinemia;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Carnosinase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : %212200;

Details

Origin ID

212200;

UMLS CUI

C3495555;

Automatic exact mappings (from CISMeF team)
- aminoacyl-histidine dipeptidase deficiency [SNOMED Notion]
- homocarnosinosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Carnosinaemia [ICD-11 Sub-sub category]
- Carnosinase deficiency [ORDO Disease]
- Carnosinemia [NCIt concept]
- Carnosinemia [PASCAL descriptor]
- Carnosinemia (disorder) [SNOMED CT concept]
- Deficiency of carnosinase (disorder) [SNOMED CT concept]
- carnosinase deficiency [MeSH concept]
- carnosinemia [MeSH concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Carnosinuria [HPO term]
- Generalized myoclonic seizure [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Carnosinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnosinaemia [ICD-11 Sub-sub category]
- Carnosinemia [NCIt concept]
- Carnosinemia (disorder) [SNOMED CT concept]
- carnosinemia [MeSH concept]

Keyword's position in hierarchy(ies) :

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