310531000146102: X-gebonden trombocytopenie (aandoening)

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

\Laboratory test finding (finding)\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)\X-linked thrombocytopenic disorder (disorder)

\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)\X-linked thrombocytopenic disorder (disorder)

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)

\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)\X-linked thrombocytopenic disorder (disorder)
\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)\X-linked thrombocytopenic disorder (disorder)
\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)\X-linked thrombocytopenic disorder (disorder)
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)

\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)\X-linked thrombocytopenic disorder (disorder)

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2024. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked thrombocytopenic disorder (disorder)	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
X-linked thrombocytopenic disorder (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	3
X-linked thrombocytopenic disorder (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1
X-linked thrombocytopenic disorder (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
X-linked thrombocytopenic disorder (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	2
X-linked thrombocytopenic disorder (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X-linked thrombocytopenic disorder (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	X-linked thrombocytopenic disorder (disorder)	Inferred relationship	Some
X-linked thrombocytopenia with normal platelets (disorder)	Is a	True	X-linked thrombocytopenic disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
14440011000146114	X-linked thrombocytopenic disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14440031000146119	X-linked thrombocytopenic disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14440001000146112	X-gebonden trombocytopenie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14440021000146116	X-gebonden trombocytopenie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)