Phace association

Preferred Label : Phace association;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Aortic aneurysm, giant congenital; Phaces association;

Inheritance : Isolated cases;

Prefixed ID : 606519;

Details

Origin ID

606519;

UMLS CUI

C1847874;

Automatic exact mappings (from CISMeF team)
- aortic aneurysm, giant congenital [MeSH concept]
- aortic aneurysm, giant congenital [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- PHACE association [MeSH concept]
- PHACE association [MeSH Supplementary Concept]
- PHACE syndrome [PASCAL descriptor]
- PHACE syndrome [ICD-11 More detail]
- PHACE syndrome [ORDO Disease]
- PHACES syndrome [MedDRA Preferred Term]
HPO term(s)
- Anomalous branches of internal carotid artery [HPO term]
- Aortic aneurysm [HPO term]
- Arterial stenosis [HPO term]
- Cavernous hemangioma of the face [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarctation of aorta [HPO term]
- Congenital hypothyroidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Developmental cataract [HPO term]
- Facial hemangioma [HPO term]
- Global developmental delay [HPO term]
- Horner syndrome [HPO term]
- Increased retinal vascularity [HPO term]
- Lingual thyroid [HPO term]
- Microphthalmia [HPO term]
- Migraine [HPO term]
- Optic atrophy [HPO term]
- Optic nerve hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Plaque-like facial hemangioma [HPO term]
- Posterior fossa malformations [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
- Subglottic hemangioma [HPO term]
- Vascular dilatation [HPO term]
- Ventricular septal defect [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- PHACE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PHACE association [MeSH Supplementary Concept]
- PHACE association [MeSH concept]
- PHACE syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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