pierre robin syndrome with fetal chondrodysplasia

Preferred Label : pierre robin syndrome with fetal chondrodysplasia;

MeSH synonym : Weissenbacher-Zweymuller syndrome; heterozygous otospondylomegaepiphyseal dysplasia; heterozygous osmed; Weissenbacher-Zweymüller Syndrome;

Details

Origin ID

C535776;

UMLS CUI

C1848488;

Automatic exact mappings (from CISMeF team)
- OSMED heterozygous [MedDRA LLT]
- Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM Phenotype]
Currated CISMeF NLP mapping
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- Weissenbacher-zweymuller syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
- pierre robin syndrome [MeSH Descriptor]
Record concept(s)
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
See also inter- (CISMeF)
- Otospondylomegaepiphyseal dysplasia, autosomal dominant [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- OSMED heterozygous [MedDRA LLT]
- Otospondylomegaepiphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- Weissenbacher-zweymuller syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients