Keratolytic winter erythema

Preferred Label : Keratolytic winter erythema;

Symbol : KWE;

CISMeF acronym : KWE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oudtshoorn skin disease;

Inheritance : Autosomal dominant;

Molecular basis : Caused by tandem duplication (7.6-15.9 kb) upstream of CTSB (116810) that disrupts a cis-acting regulatory element affecting expression of CTSB;

Prefixed ID : #148370;

Details

Origin ID

148370;

UMLS CUI

C0406756;

Automatic exact mappings (from CISMeF team)
- Keratolytic winter erythema [ICD-11 More detail]
- keratolytic winter erythema (Oudtshoorn skin disease) [HGNC gene]
Currated CISMeF NLP mapping
- Keratolytic winter erythema [MeSH concept]
- Keratolytic winter erythema [ORDO Disease]
- Keratolytic winter erythema (disorder) [SNOMED CT concept]
- keratolytic winter erythema [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Erythema [HPO term]
- Palmoplantar hyperhidrosis [HPO term]
ORDO concept(s)
- Keratolytic winter erythema [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratolytic winter erythema [ORDO Disease]
- Keratolytic winter erythema [MeSH concept]
- Keratolytic winter erythema (disorder) [SNOMED CT concept]
- keratolytic winter erythema [MeSH Supplementary Concept]

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