OMOP Concept 4146759
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
StandardConditionSNOMED30287008Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 138250 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | Non-standard |
| MeSH | C538380 | HHH syndrome | Non-standard |
| Nebraska Lexicon | 30287008 | Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome | Non-standard |
Synonyms
Alternative names recorded for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome across source vocabularies.
- HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
- HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)
- síndrome de hiperornitinemia - hiperamonemia - homocitrulinuria
- síndrome de hiperornitinemia, hiperamonemia, homocitrulinuria asociada al gen SLC25A15
- síndrome de hiperornitinemia - hiperamonemia - homocitrulinuria (trastorno)
- SLC25A15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome
- SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
- Solute carrier family 25 member 15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome
- Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(28)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of ornithine metabolism
- 1Disorder of the central nervous system
- 1Hyperammonemia
- 1Hyperornithinemia
- 1Inherited metabolic disorder of nervous system
- 2Aminoacidemia
- 2Autosomal hereditary disorder
- 2Central nervous system finding
- 2Disorder of nervous system
- 2Disorder of the urea cycle metabolism
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 3Acidemia
- 3Clinical finding
- 3Congenital disease
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of body system
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 4Disease
- 4Disorder of acid-base balance
- 4Disorder of amino acid metabolism
- 4Disorder of fetus and/or newborn
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