tyrosinemia, type I

Preferred Label : tyrosinemia, type I;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0336266;

UMLS CUI

C0268490;

Currated CISMeF NLP mapping
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Fumarylacetoacetase deficiency, acute type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- Tyrosinemia Type I [NCIt concept]
- Tyrosinemia type 1 [ORDO Disease]
- Tyrosinemia type I [MedDRA LLT]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- Tyrosinemia, type I [OMIM Phenotype]
- fumarylacetoacetase deficiency, acute type [SNOMED Notion]
- tyrosinemia type I [DO Concept]
- tyrosinemia type I [Disease (Nov.)]
Has phenotype(s) (HPO)
- Pancreatic islet-cell hypertrophy [HPO term]
Related record
- tyrosinemias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- Tyrosinemia Type I [NCIt concept]
- Tyrosinemia type 1 [ORDO Disease]
- Tyrosinemia type I [MedDRA LLT]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- Tyrosinemia, type I [OMIM Phenotype]
- tyrosinemia type I [DO Concept]
- tyrosinemia type I [Disease (Nov.)]