Tyrosinemia Type II

Preferred Label : Tyrosinemia Type II;

NCIt definition : Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive.;

Details

Origin ID

C129032;

UMLS CUI

C0268487;

Currated CISMeF NLP mapping
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 2 [ICD-11 Sub-sub category]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinemia type 2 [ORDO Disease]
- Tyrosinemia type II [MedDRA LLT]
- Tyrosinemia, type II [OMIM Phenotype]
- tyrosinemia type II [DO Concept]
- tyrosinemia type II [Disease (Nov.)]
- tyrosinemia, type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of tyrosine aminotransferase (disorder) [SNOMED CT concept]
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 2 [ICD-11 Sub-sub category]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinemia type 2 [ORDO Disease]
- Tyrosinemia type II [MedDRA LLT]
- Tyrosinemia, type II [OMIM Phenotype]
- hypertyrosinemia, richner-hanhart type [SNOMED Notion]
- tyrosinemia type II [DO Concept]
- tyrosinemia type II [Disease (Nov.)]
- tyrosinemia, type II [MeSH concept]
Validated automatic mappings to NTBT
- tyrosinemias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TAT Gene [NCIt concept]
related_to_genetic_biomarker
- TAT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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