359531004: Amegakaryocytic thrombocytopenia with congenital malformation (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\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia with congenital malformation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia with congenital malformation

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

\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

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

\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Congenital disease\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

473350011 Amegakaryocytic thrombocytopenia with congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module

728070016 Amegakaryocytic thrombocytopenia with congenital malformation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Thrombocytopenia due to defective platelet production	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Platelet	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Associated etiologic finding	Abnormal platelet production	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Due to	Abnormal platelet production	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Amegakaryocytic thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Amegakaryocytic thrombocytopenia with congenital malformation	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	2
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Amegakaryocytic thrombocytopenia with congenital malformation	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3
Amegakaryocytic thrombocytopenia with congenital malformation	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital malformation syndrome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	True	Amegakaryocytic thrombocytopenia with congenital malformation	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
473350011	Amegakaryocytic thrombocytopenia with congenital malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
728070016	Amegakaryocytic thrombocytopenia with congenital malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module