Sneddon syndrome

Preferred Label : Sneddon syndrome;

Symbol : SNDNS;

CISMeF acronym : SNDNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Livedo reticularis and cerebrovascular accidents;

Description : Sneddon syndrome is a noninflammatory arteriopathy characterized by livedo reticularis and cerebrovascular disease. Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (CECR1, 607575.0010);

Laboratory abnormalities : Associated with serum anti-phospholipid antibodies in about 50% of patients;

Prefixed ID : #182410;

Details

Origin ID

182410;

UMLS CUI

C0282492;

Automatic exact mappings (from CISMeF team)
- Sneddon syndrome [PASCAL descriptor]
- Sneddon syndrome [DO Concept]
- Sneddon syndrome [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Idiopathic livedo reticularis with systemic involvement (disorder) [SNOMED CT concept]
- Livedo reticularis and cerebrovascular accident syndrome (disorder) [SNOMED CT concept]
- Sneddon syndrome [ORDO Disease]
- Sneddon's syndrome [MedDRA Preferred Term]
- sneddon syndrome [MeSH Descriptor]
- sneddon syndrome [MeSH concept]
DO Cross reference
- Sneddon syndrome [DO Concept]
Genes related to phenotype
- Adenosine deaminase 2 [OMIM gene]
HPO term(s)
- Antiphospholipid antibody positivity [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Cerebral hemorrhage [HPO term]
- Cerebrovascular accident [HPO term]
- Cutis marmorata [HPO term]
- Decreased circulating total IgM [HPO term]
- Dysarthria [HPO term]
- Facial palsy [HPO term]
- Headache [HPO term]
- Hemiplegia [HPO term]
- Hypertension [HPO term]
- Impaired distal tactile sensation [HPO term]
- Infantile onset [HPO term]
- Ischemic stroke [HPO term]
- Isolated cases [HPO term]
- Livedo [HPO term]
- Livedo racemosa [HPO term]
- Livedo reticularis [HPO term]
- Lymphopenia [HPO term]
- Mental deterioration [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
- Stroke [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Sneddon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic livedo reticularis with systemic involvement (disorder) [SNOMED CT concept]
- Livedo reticularis and cerebrovascular accident syndrome (disorder) [SNOMED CT concept]
- Sneddon syndrome [ORDO Disease]
- Sneddon syndrome [DO Concept]
- Sneddon's syndrome [MedDRA Preferred Term]
- sneddon syndrome [MeSH Descriptor]
- sneddon syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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