Suprabulbar paresis, congenital

Preferred Label : Suprabulbar paresis, congenital;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Worster-drought syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 185480;

Details

Origin ID

185480;

UMLS CUI

C0796204;

Automatic exact mappings (from CISMeF team)
- Worster-Drought syndrome [ICD-11 Category]
Currated CISMeF NLP mapping
- Congenital suprabulbar paresis (disorder) [SNOMED CT concept]
- Worster Drought syndrome [MeSH concept]
- Worster-Drought syndrome [ORDO Disease]
- worster drought syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- EEG abnormality [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Worster-Drought syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital suprabulbar paresis (disorder) [SNOMED CT concept]
- Worster Drought syndrome [MeSH concept]
- Worster-Drought syndrome [ORDO Disease]
- worster drought syndrome [MeSH Supplementary Concept]

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