hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Preferred Label : hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;

Details

Origin ID

D6-A5120;

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 concept]
- HHH syndrome [MeSH Supplementary Concept]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome [NCIt concept]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [OMIM Phenotype]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
- ornithine translocase deficiency [Disease (Nov.)]
- ornithine translocase deficiency [DO Concept]
Has phenotype(s) (HPO)
- Chorioretinal thinning [HPO term]
- Epilepsy [HPO term]
- Liver dysfunction [HPO term]
- Retinal depigmentation [HPO term]
ICD-10 exact mapping(s)
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- ornithine decarboxylase [SNOMED Notion]
SNOMED CT concept
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Hhhh syndrome [OMIM Phenotype]
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 [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]
- ornithine translocase deficiency [DO Concept]
- ornithine translocase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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