Steatocystoma multiplex

Preferred Label : Steatocystoma multiplex;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sebaceous cysts, multiple;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 17 gene (KRT17, 148069.0004);

Prefixed ID : #184500;

Details

Origin ID

184500;

UMLS CUI

C0259771;

Automatic exact mappings (from CISMeF team)
- Steatocystoma multiplex [PASCAL descriptor]
- Steatocystoma multiplex [HPO term]
- Steatocystoma multiplex [ICD-11 More detail]
- pachyonychia congenita [MeSH Descriptor]
- sebocystomatosis [MeSH concept]
- sebocystomatosis [MeSH Supplementary Concept]
- steatocystoma multiplex [DO Concept]
Currated CISMeF NLP mapping
- Sebocystomatosis [ORDO Disease]
- Steatocystoma multiplex [ICD-10 Sub-category]
- Steatocystoma multiplex [ICD-10 Sub-category (who)]
- Steatocystoma multiplex [MedDRA Preferred Term]
- Steatocystoma multiplex (disorder) [SNOMED CT concept]
- steatocystoma multiplex [MeSH concept]
- steatocystoma multiplex [MeSH Descriptor]
DO Cross reference
- steatocystoma multiplex [DO Concept]
Genes related to phenotype
- Keratin 17, type I [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Steatocystoma multiplex [HPO term]
Not associated HPO term(s)
- Natal tooth [HPO term]
ORDO concept(s)
- Sebocystomatosis [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Sebocystomatosis [ORDO Disease]
- Steatocystoma multiplex [ICD-10 Sub-category (who)]
- Steatocystoma multiplex [MedDRA Preferred Term]
- Steatocystoma multiplex [ICD-10 Sub-category]
- Steatocystoma multiplex [HPO term]
- Steatocystoma multiplex (disorder) [SNOMED CT concept]
- steatocystoma multiplex [MeSH Descriptor]
- steatocystoma multiplex [MeSH concept]

Keyword's position in hierarchy(ies) :

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