Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | 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 |
5402255010 | A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402256011 | A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318117011 | Tubular renal disease with cardiomyopathy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 |
5402255010 | A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402256011 | A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3440711001000116 | Syndrom der Nierentubulopathie mit dilatierter Kardiomyopathie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
970831000172110 | syndrome d'insuffisance rénale tubulaire-cardiomyopathie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
970831000172110 | syndrome d'insuffisance rénale tubulaire-cardiomyopathie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3440711001000116 | Syndrom der Nierentubulopathie mit dilatierter Kardiomyopathie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Is a | Renal tubular disorder (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Is a | Congestive cardiomyopathy (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Associated morphology | Dilatation | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. | Finding site | Myocardium structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)