438492008: Hereditary thrombocytopenic disorder (disorder)

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

\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)

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

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)

\Inherited platelet disorder\Hereditary 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)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary 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)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
2790581011 Hereditary thrombocytopenic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2503701000052111 ärftlig trombocytopeni sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radial aplasia-thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Epsteins syndrom	Is a	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Bernard Soulier syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Fanconi's anemia	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
MYH9 related disease	Is a	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
DK phocomelia syndrome (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
syndrom med MYH9-relaterad makrotrombocytopeni	Is a	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
May-Hegglins anomali	Is a	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Hereditary thrombocytopenia with normal platelets	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
X-linked thrombocytopenia with normal platelets (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Hereditary thrombocytopenia with early-onset myelofibrosis	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia (disorder)	Is a	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	Is a	True	Hereditary 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
2788589014	Hereditary thrombocytopenic disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2790581011	Hereditary thrombocytopenic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2503701000052111	ärftlig trombocytopeni	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)