brachymesomelia renal syndrome

Preferred Label : brachymesomelia renal syndrome;

MeSH note : Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities;

MeSH synonym : langer nishino yamaguchi syndrome; brachymesomelia-renal syndrome;

Détails

Origin ID

C537096;

UMLS CUI

C1862084;

Currated CISMeF NLP mapping
- Brachymesomelia-renal syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Corneal opacity [HPO term]
- Flattened nasal bridge [HPO term]
- Genu varus [HPO term]
- Isolated cases [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- corneal dystrophies, hereditary [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- kidney diseases, cystic [MeSH Descriptor]
Record concept(s)
- brachymesomelia renal syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachymesomelia-renal syndrome [OMIM Phenotype]

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

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