Alkaptonuria - CISMeF

ICD-11 code : 5C50.10;

Preferred Label : Alkaptonuria;

ICD-11 definition : Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).;

ICD-11 synonym : Homogentisic acid oxidase deficiency; alcaptonuria; Ochronosis; Homogentisate 1,2-dioxygenase deficiency;

Details

Origin ID

1761652827;

UMLS CUI

C0002066;

Automatic exact mappings (from CISMeF team)
- Ochronosis [MedDRA Preferred Term]
- Ochronosis [HPO term]
- Ochronosis [PASCAL descriptor]
- Ochronosis [NCIt concept]
- Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- ochronosis [DO Concept]
- ochronosis [SNOMED Notion]
- ochronosis [MeSH Descriptor]
- ochronosis [MeSH concept]
Currated CISMeF NLP mapping
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alcaptonuria [PASCAL descriptor]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria [OMIM Phenotype]
- Alkaptonuria [NCIt concept]
- Alkaptonuria (finding) [SNOMED CT concept]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- Ochronosis, hereditary [MeSH concept]
- alkaptonuria [DO Concept]
- alkaptonuria [SNOMED Notion]
- alkaptonuria [MeSH concept]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [Disease (Nov.)]
ICD-10 Mapping
- Disorders of tyrosine metabolism [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [OMIM Phenotype]
- Alkaptonuria [NCIt concept]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria (finding) [SNOMED CT concept]
- Black urine disease [MedDRA LLT]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuria [DO Concept]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [MeSH concept]
- alkaptonuria [Disease (Nov.)]
- alkaptonuria [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorders of tyrosine metabolism [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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