716336002: Congenital amegakaryocytic thrombocytopenia (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\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\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\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

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

\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

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

\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Congenital disease\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3305550013 Congenital amegakaryocytic thrombocytopenia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3305551012 Congenital amegakaryocytic thrombocytopenia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital amegakaryocytic thrombocytopenia	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia	Is a	Amegakaryocytic thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Congenital amegakaryocytic thrombocytopenia	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Congenital amegakaryocytic thrombocytopenia	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	1
Congenital amegakaryocytic thrombocytopenia	Is a	Congenital thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia	Interprets	Hemostatic function	false	Inferred relationship	Existential restriction modifier	2
Congenital amegakaryocytic thrombocytopenia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Congenital amegakaryocytic thrombocytopenia	Interprets	Hemostatic function	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
3305550013	Congenital amegakaryocytic thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3305551012	Congenital amegakaryocytic thrombocytopenia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module