powell chandra saal syndrome

Preferred Label : powell chandra saal syndrome;

MeSH note : Pterygia, Heart defects, Autosomal recessive inheritance, Vertebral defects, Ear anomalies, and Radial defects;

MeSH synonym : PHAVER syndrome; vertebral, radial, congenital heart, and ear defects;

Details

Origin ID

C538357;

UMLS CUI

C1849928;

Currated CISMeF NLP mapping
- PHAVER syndrome [ORDO Disease]
- Phaver syndrome [OMIM Phenotype]
- Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- ear [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- pterygium [MeSH Descriptor]
- radius [MeSH Descriptor]
- spine [MeSH Descriptor]
- vertebrates [MeSH Descriptor]
Record concept(s)
- Powell Chandra Saal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PHAVER syndrome [ORDO Disease]
- Phaver syndrome [OMIM Phenotype]
- Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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