Carnosinaemia - CISMeF

ICD-11 code : 5C50.F1;

Preferred Label : Carnosinaemia;

ICD-11 definition : Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.;

ICD-11 synonym : Aminoacyl-histidine dipeptidase deficiency; Carnosinuria; Carnosinase deficiency;

Details

Origin ID

486093841;

UMLS CUI

C3495555;

Currated CISMeF NLP mapping
- Carnosinemia [OMIM Phenotype]
- Carnosinemia [NCIt concept]
- Carnosinemia [PASCAL descriptor]
- Carnosinemia (disorder) [SNOMED CT concept]
- carnosinemia [MeSH concept]
ICD-10 Mapping
- Other disorders of aromatic amino-acid metabolism [ICD-10 Sub-category]
See also inter- (CISMeF)
- Carnosinase deficiency [ORDO Disease]
- Carnosinuria [HPO term]
- Carnosinuria (disorder) [SNOMED CT concept]
- Deficiency of aminoacyl-histidine dipeptidase (disorder) [SNOMED CT concept]
- Deficiency of carnosinase (disorder) [SNOMED CT concept]
- aminoacyl-histidine dipeptidase deficiency [SNOMED Notion]
- carnosinase deficiency [MeSH concept]
- carnosinuria [CISMeF Querying Strategy]
- homocarnosinosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnosinemia [OMIM Phenotype]
- Carnosinemia [NCIt concept]
- Carnosinemia (disorder) [SNOMED CT concept]
- carnosinemia [MeSH concept]
Validated automatic mappings to NTBT
- Disorder of aromatic amino acid metabolism (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients