Hooft disease - CISMeF

Preferred Label : Hooft disease;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 236300;

Details

Origin ID

236300;

UMLS CUI

C0268479;

Currated CISMeF NLP mapping
- Hooft disease [MeSH concept]
- hooft disease [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Growth abnormality [HPO term]
- Intellectual disability [HPO term]
- Leukonychia [HPO term]
- Rod-cone dystrophy [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hooft disease [MeSH concept]
- Hooft's syndrome (disorder) [SNOMED CT concept]
- hooft disease [MeSH Supplementary Concept]
- hooft's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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