Tyrosinemia - CISMeF

Preferred Label : Tyrosinemia;

NCIt definition : An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.;

Details

Origin ID

C98640;

UMLS CUI

C0268486;

Automatic exact mappings (from CISMeF team)
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]
- Hypertyrosinemia [HPO term]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Hereditary hypertyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinaemia [MedDRA Preferred Term]
- Tyrosinemia [MedDRA LLT]
- Tyrosinemia [PASCAL descriptor]
- Tyrosinemia [OMIM phenotypic series]
- Tyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinemias [LOINC component]
- hereditary hypertyrosinemia, nos [SNOMED Notion]
- tyrosinemia [DO Concept]
- tyrosinemia [Disease (Nov.)]
- tyrosinemias [MeSH Descriptor]
- tyrosinemias [MeSH concept]
DO Cross reference
- tyrosinemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hypertyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinaemia [MedDRA Preferred Term]
- Tyrosinemia [MedDRA LLT]
- Tyrosinemia [PASCAL descriptor]
- Tyrosinemia (disorder) [SNOMED CT concept]
- Tyrosinemias [LOINC component]
- hereditary hypertyrosinemia, nos [SNOMED Notion]
- tyrosinemia [DO Concept]
- tyrosinemia [Disease (Nov.)]
- tyrosinemias [MeSH concept]
- tyrosinemias [MeSH Descriptor]
Validated automatic mappings to NTBT
- Disorders of tyrosine metabolism [ICD-10 Sub-category]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
related_to_genetic_biomarker
- FAH Gene [NCIt concept]
- HPD Gene [NCIt concept]
- TAT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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