Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Preferred Label : Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome;

NCIt synonyms : HHH;

NCIt definition : An autosomal recessive disorder caused by mutation(s) in the SLC25A15 gene, encoding mitochondrial ornithine transporter 1. The condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures.;

Détails

Origin ID

C129029;

UMLS CUI

C0268540;

Automatic exact mappings (from CISMeF team)
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [MedDRA LLT]
- hyperornithinemia hyperammonemia homocitrullinuria [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- HHH syndrome [MeSH Supplementary Concept]
- HHH syndrome [MeSH concept]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- 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]
- hhhh syndrome [MeSH concept]
- hhhh syndrome [MeSH Supplementary Concept]
- solute carrier family 25 member 15 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HHH syndrome [MeSH Supplementary Concept]
- HHH syndrome [MeSH concept]
- HHH syndrome [MedDRA LLT]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome [MedDRA Preferred Term]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [OMIM Phenotype]
- 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.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC25A15 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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