ichthyosis with hypotrichosis, autosomal recessive

Preferred Label : ichthyosis with hypotrichosis, autosomal recessive;

MeSH synonym : autosomal recessive ichthyosis with hypotrichosis; Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis;

Details

Origin ID

C536273;

UMLS CUI

C1835851;

Automatic exact mappings (from CISMeF team)
- Ichthyosis, congenital, autosomal recessive 11 [OMIM Phenotype]
- autosomal recessive congenital ichthyosis 11 [DO Concept]
Currated CISMeF NLP mapping
- Ichthyosis with hypotrichosis, autosomal recessive [OMIM Phenotype]
- Ichthyosis – hypotrichosis syndrome [ICD-11 More detail]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Congenital ichthyosis [HPO term]
- Corneal opacity [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Ichthyosis [HPO term]
MeSH term(s) associated for indexing
- hypotrichosis [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
Record concept(s)
- Ichthyosis with hypotrichosis, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis with hypotrichosis, autosomal recessive [OMIM Phenotype]
- Ichthyosis, congenital, autosomal recessive 11 [OMIM Phenotype]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]

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