loading...| Preferred Name |
systemic scleroderma |
|
| Synonyms |
diffuse Scleroderma Scleroderma systemic Scleroderma Scleroderma, diffuse SS - Systemic sclerosis Systemic sclerosis Scleroderma (& [systemic sclerosis]) progressive systemic sclerosis Sclerosis, Systemic systemic scleroderma Progressive systemic sclerosis Scleroderma, systemic diffuse sclerosis Systemic Scleroderma systemic sclerosis Scleroderma, Systemic SSc, diffuse sclerosis Scleroderma syndrome PSS - Progressive systemic sclerosis Thibierge-Weissenbach syndrome PSS (progressive systemic sclerosis) Systemic sclerosis (disorder) SSc |
|
| Definitions |
A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0000717 |
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| closeMatch | ||
| database_cross_reference |
MedDRA:10042953 SNOMEDCT:89155008 NANDO:1200277 MeSH:D012595 MedDRA:10036814 MedDRA:10078638 Orphanet:90291 SNOMEDCT:444133002 NCIt:C72070 NCIT:C72070 SCTID:89155008 icd11.foundation:1084365812 MESH:D012595 NANDO:2200429 UMLS:C0036421 DOID:418 GARD:9748 ICD10:M34 ICD9:710.1 NORD:2007 MONDO:0005100 |
|
| definition |
A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_418 http://identifiers.org/mesh/D012595 http://identifiers.org/snomedct/89155008 http://purl.obolibrary.org/obo/NCIT_C72070 |
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| gwas_trait |
true |
|
| has_broad_synonym |
Scleroderma |
|
| has_exact_synonym |
diffuse Scleroderma Scleroderma systemic Scleroderma Scleroderma, diffuse SS - Systemic sclerosis Systemic sclerosis Scleroderma (& [systemic sclerosis]) progressive systemic sclerosis Sclerosis, Systemic systemic scleroderma Progressive systemic sclerosis Scleroderma, systemic diffuse sclerosis Systemic Scleroderma systemic sclerosis Scleroderma, Systemic SSc, diffuse sclerosis Scleroderma syndrome PSS - Progressive systemic sclerosis Thibierge-Weissenbach syndrome PSS (progressive systemic sclerosis) Systemic sclerosis (disorder) SSc |
|
| id |
EFO:0000717 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
systemic scleroderma |
|
| notation |
EFO:0000717 |
|
| prefLabel |
systemic scleroderma |
|
| term editor |
James Malone Gautier Koscielny |
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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003086 http://www.ebi.ac.uk/efo/EFO_1001993 |
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| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016345 |