HHH syndrome - CISMeF

Preferred Label : HHH syndrome;

MeSH synonym : hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; ornithine translocase deficiency; hyperornithinemia-hyperammonemia-homocitrullinuria; triple H syndrome; Hyperornithinemia-Hyperammonemia-Homocitrullinemia syndrome;

Details

Origin ID

C538380;

UMLS CUI

C0268540;

Currated CISMeF NLP mapping
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- 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 [Disease (Nov.)]
- ornithine translocase deficiency [DO Concept]
MeSH term(s) associated for indexing
- hyperammonemia [MeSH Descriptor]
- ornithine [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH Descriptor]
Record concept(s)
- HHH syndrome [MeSH concept]
See also inter- (CISMeF)
- Hhhh syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HHH syndrome [MedDRA LLT]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- 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.)]

Keyword's position in hierarchy(ies) :

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