congenital cataracts, facial dysmorphism, and neuropathy

Preferred Label : congenital cataracts, facial dysmorphism, and neuropathy;

MeSH note : mutation on CTDP1;

MeSH synonym : cataract, congenital, with facial dysmorphism and neuropathy;

Details

Origin ID

C565822;

UMLS CUI

C1858726;

CISMeF manual mappings
- Congenital cataracts, facial dysmorphism and neuropathy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital cataracts - facial dysmorphism - neuropathy [ICD-11 More detail]
- Congenital cataracts, facial dysmorphism, and neuropathy [OMIM Phenotype]
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- nervous system diseases [MeSH Descriptor]
Record concept(s)
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital cataracts, facial dysmorphism and neuropathy (disorder) [SNOMED CT concept]
- Congenital cataracts, facial dysmorphism, and neuropathy [OMIM Phenotype]
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]

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