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128096008: Hereditary platelet function disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
194690019 Hereditary platelet function disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732056019 Hereditary platelet function disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4787601000241118 anomalie héréditaire de la fonction plaquettaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

28 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary platelet function disorder Is a Inherited platelet disorder true Inferred relationship Some
Hereditary platelet function disorder Is a Hereditary disorder of hematologic system false Inferred relationship Some
Hereditary platelet function disorder Is a Qualitative platelet disorder false Inferred relationship Some
Hereditary platelet function disorder Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary platelet function disorder Finding site Platelet false Inferred relationship Some
Hereditary platelet function disorder Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary platelet function disorder Has definitional manifestation Platelet finding false Inferred relationship Some
Hereditary platelet function disorder Has definitional manifestation Hemostatic system finding false Inferred relationship Some
Hereditary platelet function disorder Is a Qualitative platelet disorder (disorder) true Inferred relationship Some
Hereditary platelet function disorder Finding site Body system structure true Inferred relationship Some 2
Hereditary platelet function disorder Interprets Hemostatic function true Inferred relationship Some 1
Hereditary platelet function disorder Has interpretation Abnormal true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Platelet type pseudo-von Willebrand disease Is a False Hereditary platelet function disorder Inferred relationship Some
Scott syndrome Is a True Hereditary platelet function disorder Inferred relationship Some
Platelet storage pool defect Is a True Hereditary platelet function disorder Inferred relationship Some
Familial alpha>2< adrenergic receptor defect in platelets Is a True Hereditary platelet function disorder Inferred relationship Some
Isolated collagen aggregation defect Is a True Hereditary platelet function disorder Inferred relationship Some
Glanzmann's thrombasthenia Is a True Hereditary platelet function disorder Inferred relationship Some
Platelet procoagulant activity deficiency Is a True Hereditary platelet function disorder Inferred relationship Some
Platelet secretory disorder Is a True Hereditary platelet function disorder Inferred relationship Some
Bernard Soulier syndrome Is a True Hereditary platelet function disorder Inferred relationship Some
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. Is a True Hereditary platelet function disorder Inferred relationship Some
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleeding, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Is a True Hereditary platelet function disorder Inferred relationship Some
A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia. Is a True Hereditary platelet function disorder Inferred relationship Some
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. Is a True Hereditary platelet function disorder Inferred relationship Some
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia. Is a True Hereditary platelet function disorder Inferred relationship Some
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. Is a True Hereditary platelet function disorder Inferred relationship Some

This concept is not in any reference sets

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