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725105006: Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3438645010 Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3438646011 Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3438647019 Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403401017 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403402012 Bleeding disorder due to CalDAG-GEFI deficiency is a rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438645010 Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3438646011 Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3438647019 Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3438648012 A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438649016 A rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403401017 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403402012 Bleeding disorder due to CalDAG-GEFI deficiency is a rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454001001000113 Blutungskrankheit durch CalDAG-GEFI-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826201000241115 trouble hémorragique dû à un déficit en facteur d'échange I de nucléotide à guanine régulé par le calcium et le diacylglycérol fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826211000241118 trouble hémorragique dû à un déficit en CalDAG-GEFI (calcium and diacylglycerol-regulated guanine nucleotide exchange factor I) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826201000241115 trouble hémorragique dû à un déficit en facteur d'échange I de nucléotide à guanine régulé par le calcium et le diacylglycérol fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826211000241118 trouble hémorragique dû à un déficit en CalDAG-GEFI (calcium and diacylglycerol-regulated guanine nucleotide exchange factor I) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454001001000113 Blutungskrankheit durch CalDAG-GEFI-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Is a Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. true Inferred relationship Existential restriction modifier (core metadata concept)
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Is a Hereditary platelet function disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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