Hailey-Hailey disease

Preferred Label : Hailey-Hailey disease;

ICD-11 definition : Hailey–Hailey disease is a rare hereditary autosomal dominant intraepidermal, blistering disease characterized by recurrent vesicles and erosions, usually affecting the neck, axillae and groins. It is caused by mutations in one copy of ATP2C1, a gene on chromosome 3q21 that encodes the human secretory-pathway Ca2 /Mn2 -ATPase isoform 1 (hSPCA1) on the Golgi membrane.;

ICD-11 synonym : Gougerot-Hailey-Hailey disease; Benign familial pemphigus; Hailey-Hailey disease (MIM 169600);

ICD-11 inclusion : Benign familial pemphigus;

Details

Origin ID

818400628;

UMLS CUI

C0085106;

Currated CISMeF NLP mapping
- Benign chronic pemphigus [OMIM Phenotype]
- Benign familial pemphigus [MedDRA Preferred Term]
- Familial Benign Pemphigus [NCIt concept]
- Familial benign chronic pemphigus [ORDO Disease]
- Familial benign pemphigus [MedDRA LLT]
- Familial benign pemphigus (disorder) [SNOMED CT concept]
- Hailey Hailey disease [PASCAL descriptor]
- Hailey-Hailey disease [MedDRA LLT]
- Hailey-Hailey disease [DO Concept]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]
- pemphigus, benign familial [MeSH Descriptor]
- pemphigus, benign familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign chronic pemphigus [OMIM Phenotype]
- Benign familial chronic pemphigus [MedDRA LLT]
- Benign familial pemphigus [MedDRA Preferred Term]
- Familial Benign Pemphigus [NCIt concept]
- Familial benign chronic pemphigus [ORDO Disease]
- Familial benign pemphigus [MedDRA LLT]
- Familial benign pemphigus (disorder) [SNOMED CT concept]
- Hailey Hailey disease [PASCAL descriptor]
- Hailey-Hailey disease [DO Concept]
- Hailey-Hailey disease [MedDRA LLT]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]
- pemphigus, benign familial [MeSH Descriptor]
- pemphigus, benign familial [MeSH concept]

Keyword's position in hierarchy(ies) :

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