782909004: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Disorder of hemostatic system\Blood coagulation disorder\Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
• \Disease\Disorder of hemostatic system\Blood coagulation disorder\Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

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
12728951000172115	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)	Belgian module (core metadata concept)
12728961000172118	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)	Belgian module (core metadata concept)
4546851000172118	hemorragische ziekte door alfa-1-antitrypsine-Pittsburgh-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4546861000172116	hemorragische ziekte door A1AT-Pittsburgh-variant	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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