1187252002: Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\...

\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect

\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect

\Procedure related finding\Evaluation finding\...

\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder\Autosomal dominant thrombocytopenia with platelet secretion defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4672939015 Autosomal dominant thrombocytopenia with platelet secretion defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4672940018 Autosomal dominant thrombocytopenia with platelet secretion defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4672941019 A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4672942014 A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma and potential postpartum haemorrhage among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9982861000172119 thrombocytopénie autosomique dominante associée à un défaut de sécrétion plaquettaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

9982871000172111 thrombocytopénie autosomique dominante associée à un défaut de la sécrétion de plaquettes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7158311000172112 autosomaal dominante trombopenie met gestoorde secretie van bloedplaatje nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7158321000172119 autosomaal dominante trombocytopenie met secretiedefect van trombocyt nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	Platelet secretory disorder	true	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	Interprets	Hemostatic function	true	Inferred relationship	Some	2
Autosomal dominant thrombocytopenia with platelet secretion defect	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Autosomal dominant thrombocytopenia with platelet secretion defect	Interprets	Platelet count	true	Inferred relationship	Some	3
Autosomal dominant thrombocytopenia with platelet secretion defect	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Autosomal dominant thrombocytopenia with platelet secretion defect	Finding site	Body system structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4672939015	Autosomal dominant thrombocytopenia with platelet secretion defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672940018	Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672941019	A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672942014	A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma and potential postpartum haemorrhage among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9982861000172119	thrombocytopénie autosomique dominante associée à un défaut de sécrétion plaquettaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9982871000172111	thrombocytopénie autosomique dominante associée à un défaut de la sécrétion de plaquettes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7158311000172112	autosomaal dominante trombopenie met gestoorde secretie van bloedplaatje	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7158321000172119	autosomaal dominante trombocytopenie met secretiedefect van trombocyt	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)