aminoacyl-histidine dipeptidase deficiency

Preferred Label : aminoacyl-histidine dipeptidase deficiency;

Origin ID

D6-A3130;

UMLS CUI

C3495556;

Automatic exact mappings (from CISMeF team)
- Carnosinase deficiency [ORDO Disease]
- Carnosinemia [PASCAL descriptor]
- Carnosinemia [NCIt concept]
- Carnosinemia [OMIM Phenotype]
- Carnosinemia (disorder) [SNOMED CT concept]
- Deficiency of carnosinase (disorder) [SNOMED CT concept]
- Homocarnosinosis [ICD-11 Sub-sub category]
- carnosinase deficiency [MeSH concept]
- carnosinemia [MeSH concept]
CISMeF manual mappings
- Carnosinuria (disorder) [SNOMED CT concept]
- Hyper-beta-carnosinemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Carnosinuria [HPO term]
- Deficiency of aminoacyl-histidine dipeptidase (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other disorders of aromatic amino-acid metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of peptide metabolism [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- aminoacyl-histidine dipeptidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
See also inter- (CISMeF)
- Carnosinaemia [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of aminoacyl-histidine dipeptidase (disorder) [SNOMED CT concept]