Tyrosinaemia type 2

ICD-11 code : 5C50.12;

Preferred Label : Tyrosinaemia type 2;

ICD-11 definition : Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.;

ICD-11 synonym : Keratosis palmoplantaris - corneal dystrophy; Richner-Hanhart syndrome; Hepatic tyrosine aminotransferase deficiency; Oculocutaneous tyrosinaemia; Tyrosine transaminase deficiency;

Details

Origin ID

1900229795;

UMLS CUI

C0268487;

Automatic exact mappings (from CISMeF team)
- Hepatic tyrosine aminotransferase deficiency (disorder) [SNOMED CT concept]
- hypertyrosinemia, richner-hanhart type [SNOMED Notion]
- tyrosinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinemia Type II [NCIt concept]
- 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]
ICD-10 Mapping
- Disorders of tyrosine metabolism [ICD-10 Sub-category]
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 II [MedDRA LLT]
- Tyrosinemia Type II [NCIt concept]
- 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
- Disorders of tyrosine metabolism [ICD-10 Sub-category]

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