ochronosis - CISMeF

Preferred Label : ochronosis;

MeSH definition : The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).;

MeSH synonym : ochronoses;

Wikipedia automatic translation : Alkaptonuria;

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

Details

Origin ID

D009794;

UMLS CUI

C0028817;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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]
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)]
CISMeF manual mappings
- Ochronosis [HPO term]
Currated CISMeF NLP mapping
- Ochronosis [PASCAL descriptor]
- Ochronosis [MedDRA Preferred Term]
- Ochronosis [NCIt concept]
- ochronosis [DO Concept]
- ochronosis [SNOMED Notion]
DO Cross reference
- ochronosis [DO Concept]
HPO term
- Ochronosis [HPO term]
Record concept(s)
- ochronosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- alkaptonuric ochronosis [MeSH Supplementary Concept]
- ochronosis, hereditary [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ochronosis [MedDRA Preferred Term]
- Ochronosis [HPO term]
- Ochronosis [PASCAL descriptor]
- Ochronosis [NCIt concept]
- ochronosis [SNOMED Notion]
- ochronosis [DO Concept]
Validated automatic mappings to BTNT
- Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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