1156838007: X-gebonden trombocytopenie met normale trombocyten (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)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (disorder)

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (disorder)
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (disorder)

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked thrombocytopenic disorder (disorder)\X-linked thrombocytopenia with normal platelets (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)\X-linked thrombocytopenia with normal platelets (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576300019	X-linked thrombocytopenia with normal platelets (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4576301015	X-linked thrombocytopenia with normal platelets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4576302010	X-linked thrombocytopaenia with normal platelets	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12907911000146113	X-gebonden trombocytopenie met normale trombocyten	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12907921000146115	X-gebonden trombocytopenie met normale trombocyten (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12908541000146117	X-gebonden trombocytopenie met niet-afwijkende bloedplaatjes	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)