OMOP Concept 4232841
Homogentisate 1,2-dioxygenase deficiency
StandardConditionSNOMED360378009Disorder
Maps from
6
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Homogentisate 1,2-dioxygenase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138442 | Homogentisate 1,2-dioxygenase deficiency | Non-standard |
| CIEL | 149122 | Alkaptonuria | Non-standard |
| MeSH | D000474 | Alkaptonuria | Non-standard |
| Nebraska Lexicon | 360378009 | Deficiency of homogentisate 1,2-dioxygenase | Non-standard |
| Read | C302000 | Alkaptonuria | Non-standard |
| Read | C302011 | Homogentisic acid defect | Non-standard |
Synonyms
Alternative names recorded for Homogentisate 1,2-dioxygenase deficiency across source vocabularies.
- alcaptonuria
- Alkaptonuria
- deficiencia de homogentisato 1,2-dioxigenasa
- deficiencia de homogentisato 1,2-dioxigenasa asociada al gen HGD
- deficiencia de homogentisato 1,2-dioxigenasa (trastorno)
- deficiencia de homogentisicasa
- deficiencia de homogentísico oxidasa
- deficiencia de oxidasa de ácido homogentísico oxidasa
- Deficiency of homogentisate 1,2-dioxygenase
- Deficiency of homogentisate oxygenase
- Deficiency of homogentisicase
- Hereditary ochronosis
- HGD-gene related homogentisate 1,2-dioxygenase deficiency
- Homogentisate 1,2-dioxygenase deficiency (disorder)
- Homogentisic acid oxidase deficiency
- Homogentisicaciduria
- homogentisicoaciduria
- ocronosis hereditaria
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of tyrosine metabolism
- 1Specific enzyme deficiency
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Enzymopathy
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 5Clinical finding
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