Scott syndrome

Preferred Label : Scott syndrome;

Symbol : SCTS;

CISMeF acronym : BDPLT7; SCTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Prothrombin conversion defect, familial; BDPLT7; Prothrombin consumption inhibitor, familial; Prothrombin consumption deficiency; Bleeding abnormality due to deficiency of platelet binding of factor X; Bleeding disorder, platelet-type, 7;

Description : Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2 )-elevating agents (Munnix et al., 2003).;

Inheritance : Autosomal recessive;

Prefixed ID : #262890;

Details

Origin ID

262890;

UMLS CUI

C0796149;

Automatic exact mappings (from CISMeF team)
- ANO6 wt Allele [NCIt concept]
- Spiral CT [NCIt concept]
Currated CISMeF NLP mapping
- Scott syndrome [PASCAL descriptor]
- Scott syndrome [DO Concept]
- Scott syndrome [ICD-11 More detail]
- Scott syndrome [ORDO Disease]
- Scott syndrome (disorder) [SNOMED CT concept]
- scott syndrome [MeSH concept]
- scott syndrome [MeSH Supplementary Concept]
DO Cross reference
- Scott syndrome [DO Concept]
Genes related to phenotype
- Anoctamin 6 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Factor X activation deficiency [HPO term]
ORDO concept(s)
- Scott syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scott syndrome [ORDO Disease]
- Scott syndrome [DO Concept]
- Scott syndrome [PASCAL descriptor]
- Scott syndrome (disorder) [SNOMED CT concept]
- scott syndrome [MeSH Supplementary Concept]
- scott syndrome [MeSH concept]

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