fumarylacetoacetase deficiency, chronic type

Preferred Label : fumarylacetoacetase deficiency, chronic type;

Origin ID

D6-A2160;

UMLS CUI

C0268491;

Currated CISMeF NLP mapping
- Fumarylacetoacetase deficiency, chronic type (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- fumarylacetoacetase [SNOMED Notion]
SNOMED CT concept
- Fumarylacetoacetase deficiency, chronic type (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fumarylacetoacetase deficiency, chronic type (disorder) [SNOMED CT concept]