Alkaptonuria - CISMeF

Preferred Label : Alkaptonuria;

NCIt definition : A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones.;

Details

Origin ID

C84546;

UMLS CUI

C0002066;

Automatic exact mappings (from CISMeF team)
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alcaptonuria [PASCAL descriptor]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [OMIM Phenotype]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria (finding) [SNOMED CT concept]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- Ochronosis, hereditary [MeSH concept]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [MeSH concept]
- alkaptonuria [SNOMED Notion]
DO Cross reference
- alkaptonuria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria [OMIM Phenotype]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria (finding) [SNOMED CT concept]
- Black urine disease [MedDRA LLT]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]
- alkaptonuria [MeSH concept]
- alkaptonuria [MeSH Descriptor]
- alkaptonuria [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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