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783256001: Familial thrombomodulin anomalies (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3758307019 Familial thrombomodulin anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758308012 Familial thrombomodulin anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758309016 A rare life-threatening genetic coagulation disorder with characteristics of an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis. 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
Familial thrombomodulin anomalies (disorder) Is a Familial disease true Inferred relationship Some
Familial thrombomodulin anomalies (disorder) Is a Blood coagulation disorder true Inferred relationship Some
Familial thrombomodulin anomalies (disorder) Interprets Hemostatic function true Inferred relationship Some 1
Familial thrombomodulin anomalies (disorder) Has interpretation Abnormal true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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