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782909004: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (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
3756649011 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756650011 Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756651010 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756652015 A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756653013 A rare genetic constitutional coagulation factor defect disorder characterised by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous haematomas, haematomas following minor trauma or surgery and in female patients ovarian haematomas after ovulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756649011 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756650011 Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756651010 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3756652015 A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756653013 A rare genetic constitutional coagulation factor defect disorder characterised by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous haematomas, haematomas following minor trauma or surgery and in female patients ovarian haematomas after ovulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396341001000118 Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburgh-Mutation de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6277121000241110 maladie hémorragique due à la mutation Pittsburgh de l'AAT (alpha-1-antitrypsine) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6277131000241112 maladie hémorragique due à la mutation Pittsburgh de l'alpha-1-antitrypsine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6277121000241110 maladie hémorragique due à la mutation Pittsburgh de l'AAT (alpha-1-antitrypsine) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6277131000241112 maladie hémorragique due à la mutation Pittsburgh de l'alpha-1-antitrypsine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396341001000118 Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburgh-Mutation de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Is a Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. true Inferred relationship Existential restriction modifier (core metadata concept)
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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