Extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly

Preferred Label : Extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 133750;

Details

Origin ID

133750;

UMLS CUI

C1851412;

Currated CISMeF NLP mapping
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) [SNOMED CT concept]
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome [ORDO Disease]
- extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly [MeSH concept]
- extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Intellectual disability, borderline [HPO term]
- Low intelligence [HPO term]
- Microcephaly [HPO term]
- Premature ventricular contraction [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome [ORDO Disease]
- extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly [MeSH Supplementary Concept]
- extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly [MeSH concept]

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