Ochronosis - CISMeF

Preferred Label : Ochronosis;

NCIt definition : A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.;

Details

Origin ID

C84938;

UMLS CUI

C0028817;

Automatic exact mappings (from CISMeF team)
- Alkaptonuria [ICD-11 Sub-sub category]
- Disorders of tyrosine metabolism [ICD-10 Sub-category]
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]
- Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuric ochronosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ochronosis [HPO term]
- Ochronosis [PASCAL descriptor]
- Ochronosis [MedDRA Preferred Term]
- ochronosis [DO Concept]
- ochronosis [MeSH Descriptor]
- ochronosis [MeSH concept]
- ochronosis [SNOMED Notion]
DO Cross reference
- ochronosis [DO Concept]
Peut être observé dans la(les) pathologie(s)
- Alkaptonuria [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ochronosis [PASCAL descriptor]
- Ochronosis [HPO term]
- Ochronosis [MedDRA Preferred Term]
- ochronosis [DO Concept]
- ochronosis [SNOMED Notion]
- ochronosis [MeSH Descriptor]
- ochronosis [MeSH concept]
Validated automatic mappings to BTNT
- Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- HGD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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