Preferred Label : sneddon syndrome;
MeSH definition : A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized
by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION;
CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers
(see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT;
SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic
examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis,
and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases,
2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60); A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized
by the association of LIVEDO RETICULARIS, multiple thrombotic CEREBRAL INFARCTION;
CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers
(see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT;
SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic
examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis,
and changes in the media (From Jablonski, Dictionary of Syndromes & Eponymic Diseases,
2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60).
Mutations in the CECR1 gene (ADA2 protein, human) are associated with Sneddon syndrome.;
MeSH synonym : syndrome, sneddon; livedo reticularis, systemic involvement; sneddon-champion syndrome; sneddon champion syndrome; syndrome, sneddon-champion; livedo reticularis and cerebrovascular accidents;
CISMeF synonym : Sneddon; sneddon's syndrome;
MeSH annotation : do not confuse with SNEDDON-WILKINSON DISEASE see SKIN DISEASES, VESICULOBULLOUS;
Wikipedia link : https://en.wikipedia.org/wiki/Sneddon's syndrome;
Origin ID : D018860;
UMLS CUI : C0282492;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Has phenotype(s) (HPO)
Manual NTBT mappings (CISMeF)
Ne pas confondre avec
ORDO relation(s)
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized
by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION;
CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers
(see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT;
SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic
examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis,
and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases,
2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized
by the association of LIVEDO RETICULARIS, multiple thrombotic CEREBRAL INFARCTION;
CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers
(see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT;
SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic
examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis,
and changes in the media (From Jablonski, Dictionary of Syndromes & Eponymic Diseases,
2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60).
Mutations in the CECR1 gene (ADA2 protein, human) are associated with Sneddon syndrome.
https://www.medg.fr/syndrome-de-sneddon
2021
France
teaching material
scientific and technical information
sneddon syndrome
Sneddon syndrome
---
http://www.dermis.net/dermisroot/fr/42853/diagnose.htm
Germany
scientific and technical information
sneddon syndrome
diagnosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=820
2013
false
France
French
sneddon syndrome
signs and symptoms
sneddon syndrome
rare diseases
scientific and technical information
---