Hyperornithinaemia-hyperammonaemia-homocitrullinuria

Preferred Label : Hyperornithinaemia-hyperammonaemia-homocitrullinuria;

ICD-11 definition : Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia.;

ICD-11 synonym : HHH - [Hyperornithinaemia-hyperammonaemia-homocitrullinuria] syndrome; HHH syndrome; Triple H syndrome;

Details

Origin ID

1193271821;

UMLS CUI

C0268540;

Automatic exact mappings (from CISMeF team)
- HHH syndrome [MedDRA LLT]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [MedDRA LLT]
- Triple H syndrome [MedDRA LLT]
- hyperornithinemia hyperammonemia homocitrullinuria [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- HHH syndrome [MeSH Supplementary Concept]
- HHH syndrome [MeSH concept]
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome [NCIt concept]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [OMIM Phenotype]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [SNOMED Notion]
- ornithine translocase deficiency [DO Concept]
- ornithine translocase deficiency [Disease (Nov.)]
See also inter- (CISMeF)
- Hhhh syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HHH syndrome [MeSH concept]
- HHH syndrome [MeSH Supplementary Concept]
- HHH syndrome [MedDRA LLT]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome [MedDRA Preferred Term]
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome [NCIt concept]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [OMIM Phenotype]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [MedDRA LLT]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
- Ornithine translocase deficiency [MedDRA LLT]
- Triple H syndrome [MedDRA LLT]
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [SNOMED Notion]
- ornithine translocase deficiency [DO Concept]
- ornithine translocase deficiency [Disease (Nov.)]

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