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1217211002: Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5035148012 Postural orthostatic tachycardia syndrome due to NET (norepinephrine transporter) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5035149016 Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5035150016 Familial orthostatic tachycardia due to norepinephrine transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5035151017 Orthostatic intolerance due to NET (norepinephrine transporter) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5035152012 Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5035153019 POTS (postural orthostatic tachycardia syndrome) due to NET (norepinephrine transporter) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399912019 A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399913012 A rare, genetic, primary orthostatic disorder characterised by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. 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
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a Postural orthostatic tachycardia syndrome (disorder) true Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Finding site Structure of cardiovascular system (body structure) false Inferred relationship Some 1
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Finding site Cardiac conducting system structure true Inferred relationship Some 2
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Interprets Autonomic nervous system function true Inferred relationship Some 1
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Has interpretation Abnormal true Inferred relationship Some 1
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Interprets Heart rate true Inferred relationship Some 3
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Has interpretation Increased true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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