Weissenbacher- Zweymuller syndrome

Preferred Label : Weissenbacher- Zweymuller syndrome;

ICD-11 definition : Weissenbacher-Zweymuller syndrome is a genetic disorder characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.;

Détails

Origin ID

1421501711;

UMLS CUI

C1848488;

Currated CISMeF NLP mapping
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- Weissenbacher-zweymuller syndrome [OMIM Phenotype]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary 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]
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- Weissenbacher-zweymuller syndrome [OMIM Phenotype]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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