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Sneddon Syndrome (CUI C0282492) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0282492

Semantic Type: Disease or Syndrome

GARD Definition: Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.    - this information is from GARD/ORDR/NCATS.

SNOMEDCT_US Definition: A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported.

SNOMEDCT_US Definition: A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discolouration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischaemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
Cerebro-vascular lesions and livedo reticularis
Ehrmann Sneddon syndrome
Ehrmann-Sneddon syndrome
Idiopathic livedo reticularis with systemic involvement (disorder)
Idiopathic livedo reticularis with systemic involvement
Livedo racemosa and cerebrovascular accidents
Livedo racemosa and cerebrovascular accident
Livedo reticularis and cerebrovascular accident syndrome (disorder)
Livedo reticularis and cerebrovascular accident syndrome
Livedo reticularis and cerebrovascular accidents
Livedo Reticularis, Systemic Involvement
Sneddon Champion Syndrome
Sneddon Syndrome [Disease/Finding]
Sneddon syndrome
Sneddon's syndrome
Sneddon-Champion Syndrome
Syndrome, Sneddon-Champion
Syndrome, Sneddon

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with SNEDDON-WILKINSON DISEASE see SKIN DISEASES, VESICULOBULLOUS MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X50Aw SNOMEDCT_US
CTV3ID XUtMa SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 34148 GARD
DISEASE_IDENTIFIER_ID 34149 GARD
DISEASE_IDENTIFIER_ID 5824 GARD
DISEASE_IDENTIFIER_ID 5825 GARD
DISEASE_IDENTIFIER_ID 5826 GARD
DX 19960101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20160731 SNOMEDCT_US
GENELOCUS ,2,2,q,1,1,.,2, OMIM
GENESYMBOL CECR1 OMIM
GENESYMBOL PAN OMIM
GENESYMBOL SNEDS OMIM
HAS_GARD_PAGE true GARD
HN 1996 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Comment Added GARD
MDA 19941227 MSH
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) NDFRT
MESH_DUI D018860 NDFRT
MESH_NAME Sneddon Syndrome NDFRT
MESH_UI M0028214 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C10.228.140.300.750 MSH
MN C14.907.253.774 MSH
MN C17.800.862.775 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003866 NDFRT
PM 1996 MSH
PRIMARY_PATH 10053841$10007962$10007963$10029205$Sneddon's syndrome$Central nervous system vascular disorders NEC$Central nervous system vascular disorders$Nervous system disorders MDR
PRIMARY_SOC 10029205 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7664/sneddon-syndrome/resources/1 GARD
RXAUI 3189921 RXNORM
RXAUI 3238964 RXNORM
RXAUI 3238965 RXNORM
RXAUI 3238967 RXNORM
RXAUI 5039599 RXNORM
RXCUI 1025903 RXNORM
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 12.0 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 238776001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS I77.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS R23.1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~I77.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~R23.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS I63.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS R23.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~I63.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R23.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X50Aw SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUtMa SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T056212 MSH
TERMUI T056213 MSH
TERMUI T370325 MSH
TERMUI T812296 MSH
TH NLM (1996) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0282492

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