alkaptonuria - CISMeF

Preferred Label : alkaptonuria;

MeSH definition : An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.;

MeSH synonym : alcaptonuria; alcaptonurias; homogentisic acid oxidase deficiency; homogentisic acidura;

Wikipedia link : https://en.wikipedia.org/wiki/Alkaptonuria;

Details

Origin ID

D000474;

UMLS CUI

C0002066;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- ALKAPTONURIA [WHO-ART Preferred Term]
- Alcaptonuria [PASCAL descriptor]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria [MedDRA Preferred Term]
- Alkaptonuria [NCIt concept]
- Alkaptonuria [OMIM Phenotype]
- Alkaptonuria [ORDO Disease]
- Alkaptonuria (finding) [SNOMED CT concept]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]
- alkaptonuria [SNOMED Notion]
DO Cross reference
- alkaptonuria [DO Concept]
Manual NTBT mappings (CISMeF)
- Disorder of phenylalanin or tyrosine metabolism [ORDO Disease]
- Metabolic disease with skin involvement [ORDO Disease]
- Other metabolic disease with skin involvement [ORDO Disease]
- Pigmented conjunctival lesion [ORDO Disease]
ORDO relation(s)
- Alkaptonuria [ORDO Disease]
Record concept(s)
- alkaptonuria [MeSH concept]
Related MeSH Supplementary Concept(s)
- alkaptonuric ochronosis [MeSH Supplementary Concept]
See also
- homogentisate 1,2-dioxygenase [MeSH Descriptor]
- urine [MeSH Descriptor]
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 [MedDRA Preferred Term]
- Alkaptonuria [ICD-11 Sub-sub category]
- Alkaptonuria [NCIt concept]
- Alkaptonuria (finding) [SNOMED CT concept]
- Black urine disease [MedDRA LLT]
- Homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]
- alkaptonuria [SNOMED Notion]
- alkaptonuria [DO Concept]
- alkaptonuria [Disease (Nov.)]
Validated automatic mappings to NTBT
- Disorders of tyrosine metabolism [ICD-10 Sub-category]
- Disorders of tyrosine metabolism [ICD-10 Sub-category (who)]

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