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438492008: Hereditary thrombocytopenic disorder (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder

\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder

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

\Thrombocytopenia\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\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder
\Disease\Disorder of haemostatic 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, Primitive. Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2788589014 Hereditary thrombocytopenic disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2790581011 Hereditary thrombocytopenic disorder en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
May-Hegglin anomaly	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Hereditary thrombocytopenia with normal platelets	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
X-linked thrombocytopaenia with normal platelets	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Hereditary thrombocytopenia with early-onset myelofibrosis	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Congenital autosomal recessive small-platelet thrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Epstein syndrome	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Bernard Soulier syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Fanconi's anaemia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
MYH9 related disease	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Von Voss-Cherstvoy syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
MYH9 macrothrombocytopenia syndrome	Is a	False	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
X-linked congenital dyserythropoietic anaemia with thrombocytopenia	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	True	Hereditary thrombocytopenic disorder	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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