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1208617001: 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a Hereditary thrombocytopenic disorder (disorder) true Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a Congenital thrombocytopenia (disorder) true Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Interprets Hemostatic function true Inferred relationship Some 2
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Interprets Platelet count true Inferred relationship Some 3
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Finding site Body system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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