Angiomatosis, diffuse corticomeningeal, of divry and van bogaert

Preferred Label : Angiomatosis, diffuse corticomeningeal, of divry and van bogaert;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Divry-van bogaert syndrome;

Inheritance : Autosomal recessive; Isolated cases;

Prefixed ID : %206570;

Détails

Origin ID

206570;

UMLS CUI

C1859783;

Currated CISMeF NLP mapping
- Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert [MeSH concept]
- angiomatosis, diffuse corticomeningeal, of divry and van bogaert [MeSH Supplementary Concept]
HPO term(s)
- Aplasia/Hypoplasia involving the central nervous system [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Broad-based gait [HPO term]
- Cutis marmorata [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Emotional lability [HPO term]
- Hemianopia [HPO term]
- Hypertension [HPO term]
- Migraine [HPO term]
- Pseudobulbar signs [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
- Telangiectases producing 'marbled' skin [HPO term]
- Ventriculomegaly [HPO term]
- Visual field defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert [MeSH concept]
- angiomatosis, diffuse corticomeningeal, of divry and van bogaert [MeSH Supplementary Concept]

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