1208617001: Congenital autosomal recessive small-platelet thrombocytopenia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \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\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \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\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \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\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965402015	Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965403013	Congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965404019	CARST - congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399852016	A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399853014	A rare isolated constitutional thrombocytopenia characterised by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965402015	Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965403013	Congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965404019	CARST - congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965405018	A rare isolated constitutional thrombocytopenia with characteristics of neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399852016	A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399853014	A rare isolated constitutional thrombocytopenia characterised by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3383041001000111	Kongenitale autosomale-rezessive Thrombozytopenie der kleinen Blutplättchen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383041001000111	Kongenitale autosomale-rezessive Thrombozytopenie der kleinen Blutplättchen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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