Pemphigus vulgaris, familial

Preferred Label : Pemphigus vulgaris, familial;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by Ahmed et al., 1990).;

Inheritance : Autosomal dominant form;

Prefixed ID : 169610;

Details

Origin ID

169610;

UMLS CUI

C1868502;

Currated CISMeF NLP mapping
- Pemphigus Vulgaris [NCIt concept]
- Pemphigus vulgaris [PASCAL descriptor]
- Pemphigus vulgaris [ICD-10 Sub-category]
- Pemphigus vulgaris [ICD-11 Subcategory]
- Pemphigus vulgaris [ORDO Disease]
- Pemphigus vulgaris [ICD-10 Sub-category (who)]
- Pemphigus vulgaris [MedDRA LLT]
- Pemphigus vulgaris (disorder) [SNOMED CT concept]
- pemphigus vulgaris [DO Concept]
- pemphigus vulgaris [Disease (Nov.)]
- pemphigus vulgaris [SNOMED Notion]
- pemphigus vulgaris [MeSH concept]
- pemphigus vulgaris, familial [MeSH concept]
- pemphigus vulgaris, familial [MeSH Supplementary Concept]
DO Cross reference
- pemphigus vulgaris [DO Concept]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autoimmune antibody positivity [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Oral mucosal blisters [HPO term]
ORDO concept(s)
- Pemphigus vulgaris [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pemphigus vulgaris, familial [MeSH Supplementary Concept]
- pemphigus vulgaris, familial [MeSH concept]

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