hair defect with photosensitivity and mental retardation

Preferred Label : hair defect with photosensitivity and mental retardation;

MeSH synonym : kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation; calderon Gonzalez-Cantu syndrome;

Details

Origin ID

C537628;

UMLS CUI

C1856241;

CISMeF manual mappings
- Hair defect with photosensitivity and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hair defect-photosensitivity-intellectual disability syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Hair defect with photosensitivity and impaired intellectual development [OMIM Phenotype]
Has phenotype(s) (HPO)
- Nonprogressive intellectual disability [HPO term]
- sparse hair, eyebrows and eyelashes [HPO term]
MeSH term(s) associated for indexing
- intellectual disability [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH Descriptor]
- photosensitivity disorders [MeSH Descriptor]
Record concept(s)
- Hair defect with photosensitivity and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hair defect with photosensitivity and impaired intellectual development [OMIM Phenotype]
- Hair defect with photosensitivity and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hair defect-photosensitivity-intellectual disability syndrome [ORDO Disease]

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