jagell holmgren hofer syndrome

Preferred Label : jagell holmgren hofer syndrome;

MeSH synonym : ichthyosis alopecia eclabion ectropion mental retardation; ichthyosis with alopecia, eclabion, ectropion, and mental retardation;

Details

Origin ID

C537364;

UMLS CUI

C1855788;

Currated CISMeF NLP mapping
- Ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development [OMIM Phenotype]
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- ectropion [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- lip [MeSH Descriptor]
- mouth abnormalities [MeSH Descriptor]
Record concept(s)
- Jagell Holmgren Hofer syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development [OMIM Phenotype]
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome [ORDO Disease]

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