pemphigus, benign familial

Preferred Label : pemphigus, benign familial;

MeSH definition : An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2 /Mn2 ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.;

MeSH synonym : benign familial pemphigus; familial pemphigus, benign; familial benign chronic pemphigus; hailey-hailey disease; hailey hailey disease; benign chronic pemphigus; Chronic Benign Familial Pemphigus;

Wikipedia automatic translation : Hailey–Hailey disease;

Wikipedia link : https://en.wikipedia.org/wiki/Hailey–Hailey disease;

Details

Origin ID

D016506;

UMLS CUI

C0085106;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital ectodermal dysplasia [ICD-9 code]
Currated CISMeF NLP mapping
- 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 [ICD-11 More detail]
- Hailey-Hailey disease [MedDRA LLT]
- Hailey-hailey disease [OMIM Phenotype]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]
DO Cross reference
- Hailey-Hailey disease [DO Concept]
Indexing information
- ATP2C1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Epidermal disease [ORDO Disease]
- Genetic epidermal disorder [ORDO Disease]
MedlinePlus topic(s)
- pemphigus [MedlinePlus Topic]
Record concept(s)
- pemphigus, benign familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [ICD-11 More detail]
- Hailey-Hailey disease [MedDRA LLT]
- Hailey-hailey disease [OMIM Phenotype]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]

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