438492008: Hereditary thrombocytopenic disorder (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
\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
\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
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder
\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

\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

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder

\Inherited platelet disorder\Hereditary thrombocytopenic disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2009. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2788589014 Hereditary thrombocytopenic disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2790581011 Hereditary thrombocytopenic disorder en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary thrombocytopenic disorder	Is a	Inherited platelet disorder	true	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenic disorder	Is a	Thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenic disorder	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenic disorder	Finding site	Body system structure	true	Inferred relationship	Existential restriction modifier	2
Hereditary thrombocytopenic disorder	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Hereditary thrombocytopenic disorder	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	1
Hereditary thrombocytopenic disorder	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	3
Hereditary thrombocytopenic disorder	Interprets	Hemostatic function	false	Inferred relationship	Existential restriction modifier	3
Hereditary thrombocytopenic disorder	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Hereditary thrombocytopenic disorder	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radial aplasia-thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Epstein syndrome	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Bernard Soulier syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Wiskott-Aldrich syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Fanconi's anemia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
DK phocomelia syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
MYH9 macrothrombocytopenia syndrome	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Autosomal dominant macrothrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
X-linked congenital dyserythropoietic anemia with thrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Thyrocerebrorenal syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
May-Hegglin anomaly	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenia with normal platelets	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
X-linked thrombocytopenia with normal platelets	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Hereditary thrombocytopenia with early-onset myelofibrosis	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Severe autosomal recessive macrothrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier
Congenital autosomal recessive small-platelet thrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2788589014	Hereditary thrombocytopenic disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2790581011	Hereditary thrombocytopenic disorder	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module