leg, absence deformity of, with congenital cataract

Preferred Label : leg, absence deformity of, with congenital cataract;

Définition CISMeF : Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.;

Details

Origin ID

C565442;

UMLS CUI

C1855523;

Currated CISMeF NLP mapping
- Absence deformity of leg-cataract syndrome [ORDO Disease]
- Leg, absence deformity of, with congenital cataract [OMIM Phenotype]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- leg [MeSH Descriptor]
Record concept(s)
- leg, absence deformity of, with congenital cataract [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absence deformity of leg-cataract syndrome [ORDO Disease]
- Leg, absence deformity of, with congenital cataract [OMIM Phenotype]

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