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737221003: Congenital thrombocytopenia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia

\Finding of blood, lymphatics and immune system\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia

\Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia

\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia
\Disease\Congenital disease\Congenital thrombocytopenia

Status: current, Defined. Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3527197016 Congenital thrombocytopenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3527198014 Congenital thrombocytopenia en Synonym Active Case insensitive SNOMED CT core

3527199018 Congenital thrombocytopaenia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3527197016	Congenital thrombocytopenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3527198014	Congenital thrombocytopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
3527199018	Congenital thrombocytopaenia	en	Synonym	Active	Case insensitive	SNOMED CT core