ichthyosiform erythroderma, corneal involvement, deafness

Preferred Label : ichthyosiform erythroderma, corneal involvement, deafness;

MeSH synonym : keratitis-ichthyosis-deafness syndrome, autosomal recessive; desmons syndrome; kid syndrome, autosomal recessive; ichthyosiform erythroderma, corneal involvement, and deafness;

Details

Origin ID

C537363;

UMLS CUI

C1275089;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Ichthyosis [HPO term]
MeSH term(s) associated for indexing
- corneal dystrophies, hereditary [MeSH Descriptor]
- deafness [MeSH Descriptor]
- ichthyosis, lamellar [MeSH Descriptor]
Record concept(s)
- Ichthyosiform erythroderma, corneal involvement, deafness [MeSH concept]
See also (suggested by CISMeF)
- keratitis, ichthyosis, and deafness (KID) syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) [SNOMED CT concept]
- Keratitis-ichthyosis-deafness syndrome, autosomal recessive [OMIM Phenotype]
Validated automatic mappings to BTNT
- Keratitis-ichthyosis-deafness syndrome, autosomal recessive [OMIM Phenotype]

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