737221003: congenitale trombocytopenie (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\Congenital thrombocytopenia (disorder)

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (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\Congenital thrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital thrombocytopenia (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	Is a	Thrombocytopenic disorder	true	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital thrombocytopenia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital thrombocytopenia (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	2
Congenital thrombocytopenia (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Congenital thrombocytopenia (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	3
Congenital thrombocytopenia (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fanconi's anemia	Is a	False	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
congenitale trombocytopenische purpura (aandoening)	Is a	False	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Thrombocytopathy, asplenia and miosis (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Congenital amegakaryocytic thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
DK phocomelia syndrome (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Constitutional aplastic anemia	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Kasabach-Merritt syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Bleeding diathesis due to thromboxane synthesis deficiency	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
MYH9 related disease	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3527197016	Congenital thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527198014	Congenital thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527199018	Congenital thrombocytopaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6672271000146118	congenitale trombocytopenie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672281000146116	congenitale trombocytopenie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)