Hyperkeratosis lenticularis perstans

Preferred Label : Hyperkeratosis lenticularis perstans;

Symbol : HLP;

CISMeF acronym : HLP;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Flegel disease;

Description : Hyperkeratosis lenticularis perstans is a rare cutaneous disorder occurring in older persons and manifested by multiple benign pink to reddish-brown keratotic papules that primarily affect the extremities. The disorder was first described by Flegel (1958) (summary by Bean, 1972).;

Inheritance : Autosomal dominant;

Prefixed ID : %144150;

Détails

Origin ID

144150;

UMLS CUI

C0263420;

Automatic exact mappings (from CISMeF team)
- CYP3A4 wt Allele [NCIt concept]
- Flegel disease [ICD-11 More detail]
- Flegel disease [MedDRA LLT]
- GZMB wt Allele [NCIt concept]
- Granzyme B [NCIt concept]
- Granzyme B Measurement [NCIt concept]
- Hyperkeratosis lenticularis perstans [PASCAL descriptor]
- Hyperkeratosis lenticularis perstans [MedDRA Preferred Term]
- SKI2 subunit of superkiller complex [ORDO Gene]
- SKI2 subunit of superkiller complex [HGNC gene]
- SKIC2 wt Allele [NCIt concept]
- Superkiller Complex Protein 2 [NCIt concept]
- granzyme B [HGNC gene]
- human placental lactogen [SNOMED Notion]
- huntingtin associated protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Hyperkeratosis lenticularis perstans [HPO term]
- Hyperkeratosis lenticularis perstans [MeSH concept]
- Hyperkeratosis lenticularis perstans [ORDO Disease]
- Hyperkeratosis lenticularis perstans (disorder) [SNOMED CT concept]
- hyperkeratosis lenticularis perstans [MeSH Supplementary Concept]
- hyperkeratosis lenticularis perstans [SNOMED Notion]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hyperkeratosis lenticularis perstans [HPO term]
ORDO concept(s)
- Hyperkeratosis lenticularis perstans [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Flegel disease [MedDRA LLT]
- Hyperkeratosis lenticularis perstans [ORDO Disease]
- Hyperkeratosis lenticularis perstans [MeSH concept]
- Hyperkeratosis lenticularis perstans [MedDRA Preferred Term]
- Hyperkeratosis lenticularis perstans [HPO term]
- Hyperkeratosis lenticularis perstans (disorder) [SNOMED CT concept]
- hyperkeratosis lenticularis perstans [MeSH Supplementary Concept]
- hyperkeratosis lenticularis perstans [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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