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719839000: Tubular renal disease with cardiomyopathy syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318117011 Tubular renal disease with cardiomyopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3318118018 Tubular renal disease with cardiomyopathy syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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