Scleroderma, familial progressive

Preferred Label : Scleroderma, familial progressive;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Systemic sclerosis, susceptibility to;

Included titles and symbols : Crest syndrome;

Description : Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.;

Inheritance : Autosomal dominant form;

Prefixed ID : %181750;

Details

Origin ID

181750;

UMLS CUI

C1866983;

Automatic exact mappings (from CISMeF team)
- CREST Syndrome [NCIt concept]
- CREST syndrome [ORDO Disease]
- CREST syndrome [MeSH Descriptor]
- CREST syndrome [MeSH concept]
- CREST syndrome [DO Concept]
- CREST syndrome [MedDRA Preferred Term]
- CREST syndrome [PASCAL descriptor]
- Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome (disorder) [SNOMED CT concept]
- Limited systemic sclerosis [ICD-11 Subcategory]
- Systemic sclerosis [ORDO Disease]
- crest syndrome [SNOMED Notion]
DO Cross reference
- systemic scleroderma [DO Concept]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormality of chromosome stability [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calcinosis [HPO term]
- Chromosome breakage [HPO term]
- Progressive systemic scleroderma [HPO term]
- Sclerodactyly [HPO term]
- Scleroderma [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- CREST syndrome [ORDO Disease]
- Limited cutaneous systemic sclerosis [ORDO Disease]
- Systemic sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients