Leg, absence deformity of, with congenital cataract

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

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %246000;

Details

Origin ID

246000;

UMLS CUI

C1855523;

Currated CISMeF NLP mapping
- Absence deformity of leg-cataract syndrome [ORDO Disease]
- leg, absence deformity of, with congenital cataract [MeSH concept]
- leg, absence deformity of, with congenital cataract [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the lower limb [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cranial nerve paralysis [HPO term]
- Developmental cataract [HPO term]
- Duplication involving bones of the feet [HPO term]
- Optic nerve dysplasia [HPO term]
- Progressive cataract [HPO term]
- Scoliosis [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Absence deformity of leg-cataract syndrome [ORDO Disease]
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 [MeSH Supplementary Concept]
- leg, absence deformity of, with congenital cataract [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients