CAMFAK syndrome

Preferred Label : CAMFAK syndrome;

MeSH synonym : cataract-microcephaly-failure to thrive-kyphoscoliosis; cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome;

Details

Origin ID

C537965;

UMLS CUI

C1859312;

Automatic exact mappings (from CISMeF team)
- CAMFAK syndrome [ICD-11 More detail]
- Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- CAMFAK syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- agenesis of corpus callosum [MeSH Descriptor]
- cataract [MeSH Descriptor]
- demyelinating diseases [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- CAMFAK syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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