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1279844009: Primary triglyceride deposit cardiomyovasculopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234089016 Primary triglyceride deposit cardiomyovasculopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234090013 Primary triglyceride deposit cardiomyovasculopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234091012 Neutral lipid storage disease with severe cardiovascular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400724012 A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400725013 A rare inborn error of metabolism characterised by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leucocytes is typically observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234089016 Primary triglyceride deposit cardiomyovasculopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234090013 Primary triglyceride deposit cardiomyovasculopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234091012 Neutral lipid storage disease with severe cardiovascular involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234092017 A rare inborn error of metabolism with characteristics of massive accumulation of triglycerides in the myocardium and coronary arteries while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400724012 A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400725013 A rare inborn error of metabolism characterised by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leucocytes is typically observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Lipid storage disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Structural disorder of heart true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Disorder of lipid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Vascular degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Disorder of coronary artery (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Myocardial disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Primary triglyceride deposit cardiomyovasculopathy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary triglyceride deposit cardiomyovasculopathy (disorder) Finding site Coronary artery structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary triglyceride deposit cardiomyovasculopathy (disorder) Associated morphology Fatty deposition true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary triglyceride deposit cardiomyovasculopathy (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary triglyceride deposit cardiomyovasculopathy (disorder) Associated morphology Fatty deposition 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)

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