1187614006: Severe autosomal recessive macrothrombocytopenia (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\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\...

\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia

\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia

\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia

\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia

\Functional finding\Disorder of haemostatic system\Platelet disorder\...

\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia

\Qualitative platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia

\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4674355015 Severe autosomal recessive macrothrombocytopenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4674356019 Severe autosomal recessive macrothrombocytopenia en Synonym Active Case insensitive SNOMED CT core

4674357011 A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia. en Definition Active Case sensitive SNOMED CT core

4674358018 A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe autosomal recessive macrothrombocytopenia	Is a	Giant platelet syndrome	true	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia	Finding site	Body system structure	true	Inferred relationship	Some	2
Severe autosomal recessive macrothrombocytopenia	Interprets	Haemostatic function	true	Inferred relationship	Some	1
Severe autosomal recessive macrothrombocytopenia	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Severe autosomal recessive macrothrombocytopenia	Is a	Hereditary platelet function disorder	true	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia	Is a	Hereditary thrombocytopenic disorder	true	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia	Interprets	Platelet count	true	Inferred relationship	Some	3
Severe autosomal recessive macrothrombocytopenia	Has interpretation	Below reference range	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4674355015	Severe autosomal recessive macrothrombocytopenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4674356019	Severe autosomal recessive macrothrombocytopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
4674357011	A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia.	en	Definition	Active	Case sensitive	SNOMED CT core
4674358018	A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.	en	Definition	Active	Case sensitive	SNOMED CT core