1172699002: Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)

SNOMED CT Concept\Clinical 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\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

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

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4635447014 Hereditary thrombocytopenia with early-onset myelofibrosis en Synonym Active Entire term case insensitive SNOMED CT core module

4635448016 Hereditary thrombocytopenia with early-onset myelofibrosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary thrombocytopenia with early-onset myelofibrosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenia with early-onset myelofibrosis	Is a	Hereditary thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenia with early-onset myelofibrosis	Finding site	Body system structure	true	Inferred relationship	Existential restriction modifier	3
Hereditary thrombocytopenia with early-onset myelofibrosis	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	1
Hereditary thrombocytopenia with early-onset myelofibrosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	1
Hereditary thrombocytopenia with early-onset myelofibrosis	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	2
Hereditary thrombocytopenia with early-onset myelofibrosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2

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
4635447014	Hereditary thrombocytopenia with early-onset myelofibrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4635448016	Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module