cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation

Preferred Label : cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation;

Détails

Origin ID

C563390;

UMLS CUI

C1832812;

Currated CISMeF NLP mapping
- Ayme-Gripp syndrome [DO Concept]
- Ayme-gripp syndrome [OMIM Phenotype]
DO Cross reference
- Ayme-Gripp syndrome [DO Concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- facies [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ayme-Gripp syndrome [DO Concept]
- Ayme-gripp syndrome [OMIM Phenotype]

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

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