Phaver syndrome

Preferred Label : Phaver syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Powell et al. (1993) described 2 sibs with vertebral, radial, congenital heart, and ear defects. The second born had limb pterygia and meningomyelocele. Some of the abnormalities in these 2 sibs occur in the;

Prefixed ID : 261575;

Details

Origin ID

261575;

UMLS CUI

C1849928;

Currated CISMeF NLP mapping
- PHAVER syndrome [ORDO Disease]
- Powell Chandra Saal syndrome [MeSH concept]
- Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) [SNOMED CT concept]
- powell chandra saal syndrome [MeSH Supplementary Concept]
ORDO concept(s)
- PHAVER syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PHAVER syndrome [ORDO Disease]
- Powell Chandra Saal syndrome [MeSH concept]
- Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) [SNOMED CT concept]
- powell chandra saal syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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