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

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Congenital autosomal recessive small-platelet thrombocytopenia (disorder)
• \Disease\Congenital disease\Congenital thrombocytopenia (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
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

Expanded Value Set

This concept is not in any reference sets

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