Hhhh syndrome - CISMeF

Preferred Label : Hhhh syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hereditary hemihypotrophy hemiparesis hemiathetosis syndrome;

Inheritance : X-linked recessive;

Prefixed ID : %306960;

Details

Origin ID

306960;

UMLS CUI

C1844019;

Currated CISMeF NLP mapping
- hhhh syndrome [MeSH concept]
- hhhh syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Hemiatrophy [HPO term]
- Hemiparesis [HPO term]
- Seizure [HPO term]
- X-linked recessive inheritance [HPO term]
See also inter- (CISMeF)
- 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 (disorder) [SNOMED CT concept]
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [SNOMED Notion]
- ornithine translocase deficiency [Disease (Nov.)]
- ornithine translocase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hhhh syndrome [MeSH Supplementary Concept]
- hhhh syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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