Tyrosinemia Type I

Preferred Label : Tyrosinemia Type I;

NCIt synonyms : Type I Tyrosinemia;

NCIt definition : Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma.;

Details

Origin ID

C98641;

UMLS CUI

C0268490;

Currated CISMeF NLP mapping
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- 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.)]
- tyrosinemia, type I [MeSH concept]
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 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.)]
- tyrosinemia, type I [MeSH concept]
Validated automatic mappings to BTNT
- Fumarylacetoacetase deficiency, acute type (disorder) [SNOMED CT concept]
- fumarylacetoacetase deficiency, acute type [SNOMED Notion]
Validated automatic mappings to NTBT
- tyrosinemias [MeSH Descriptor]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- FAH Gene [NCIt concept]
related_to_genetic_biomarker
- FAH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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