719839000: Tubular renal disease with cardiomyopathy syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3318117011 Tubular renal disease with cardiomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318118018 Tubular renal disease with cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318119014 This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318120015 This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
970831000172110 syndrome d'insuffisance rénale tubulaire-cardiomyopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
990991000172111 tubulaire nierziekte, cardiomyopathie nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2126821000172113 syndroom van tubulaire nierziekte en myocardiopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2196981000172114 syndroom van tubulaire nefropathie en cardiomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tubular renal disease with cardiomyopathy syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	Is a	Renal tubular disorder	true	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	Is a	Congestive cardiomyopathy (disorder)	true	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	1
Tubular renal disease with cardiomyopathy syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	2
Tubular renal disease with cardiomyopathy syndrome (disorder)	Finding site	Myocardium structure	true	Inferred relationship	Some	2

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3318117011	Tubular renal disease with cardiomyopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318118018	Tubular renal disease with cardiomyopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318119014	This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318120015	This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
970831000172110	syndrome d'insuffisance rénale tubulaire-cardiomyopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
990991000172111	tubulaire nierziekte, cardiomyopathie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2126821000172113	syndroom van tubulaire nierziekte en myocardiopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2196981000172114	syndroom van tubulaire nefropathie en cardiomyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)