forney robinson pascoe syndrome

Preferred Label : forney robinson pascoe syndrome;

MeSH note : Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;

MeSH synonym : congenital heart disease, deafness, and skeletal malformations; Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones;

Details

Origin ID

C537269;

UMLS CUI

C2931461;

CISMeF manual mappings
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cardiospondylocarpofacial Syndrome [NCIt concept]
- Cardiospondylocarpofacial syndrome [OMIM Phenotype]
- Cardiospondylocarpofacial syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- hearing loss, bilateral [MeSH Descriptor]
- mitral valve insufficiency [MeSH Descriptor]
- osteosclerosis [MeSH Descriptor]
Record concept(s)
- Forney Robinson Pascoe syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiospondylocarpofacial Syndrome [NCIt concept]
- Cardiospondylocarpofacial syndrome [ORDO Disease]
- Cardiospondylocarpofacial syndrome [OMIM Phenotype]
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients