359531004: Amegakaryocytic thrombocytopenia with congenital malformation (disorder)

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

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

\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\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 thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\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\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...

\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

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

\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\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 thrombocytopaenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation

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

Descriptions:

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 (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Platelet (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Associated etiologic finding	Abnormal platelet production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Due to	Abnormal platelet production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Amegakaryocytic thrombocytopenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amegakaryocytic thrombocytopenia with congenital malformation	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital thrombocytopaenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amegakaryocytic thrombocytopenia with congenital malformation	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amegakaryocytic thrombocytopenia with congenital malformation	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	Congenital malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (core metadata concept)

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
473350011	Amegakaryocytic thrombocytopenia with congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
728070016	Amegakaryocytic thrombocytopenia with congenital malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473350011	Amegakaryocytic thrombocytopenia with congenital malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
473350011	Amegakaryocytic thrombocytopenia with congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
728070016	Amegakaryocytic thrombocytopenia with congenital malformation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
728070016	Amegakaryocytic thrombocytopenia with congenital malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
132561000077112	thrombocytopénie amégacaryocytique avec malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
132561000077112	thrombocytopénie amégacaryocytique avec malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module