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472315005: Mitochondrial cardiomyopathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2951123017 Mitochondrial cardiomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2951138016 Mitochondrial cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5429721000241115 cardiomyopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

19 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial cardiomyopathy (disorder) Is a Cardiomyopathy associated with another disorder (disorder) true Inferred relationship Some
Mitochondrial cardiomyopathy (disorder) Finding site Myocardium structure true Inferred relationship Some 2
Mitochondrial cardiomyopathy (disorder) Due to Mitochondrial cytopathy true Inferred relationship Some 1
Mitochondrial cardiomyopathy (disorder) Is a Cardiac complication true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypertrophic mitochondrial cardiomyopathy (disorder) Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Histiocytoid mitochondrial cardiomyopathy (disorder) Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Fatal infantile mitochondrial cardiomyopathy (disorder) Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a False Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Dilated cardiomyopathy due to mitochondrial disease Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem. Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a True Mitochondrial cardiomyopathy (disorder) Inferred relationship Some

This concept is not in any reference sets

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