1208617001: Congenital autosomal recessive small-platelet 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\Congenital autosomal recessive small-platelet thrombocytopenia
• \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\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Congenital autosomal recessive small-platelet thrombocytopenia
• \Disease\Congenital disease\Congenital thrombocytopenia\Congenital autosomal recessive small-platelet thrombocytopenia

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4965403013	Congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
4965404019	CARST - congenital autosomal recessive small-platelet thrombocytopenia	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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