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16851005: Mitochondrial myopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
28528010 Mitochondrial myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
28529019 Ragged red myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400361000241112 myopathie mitochondriale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
569541000172110 myopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
743956014 Mitochondrial myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


42 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial myopathy est un(e) (attribut) affection d'un muscle squelettique false Inferred relationship Some
Mitochondrial myopathy est un(e) (attribut) Myopathy (disorder) false Inferred relationship Some
Mitochondrial myopathy est un(e) (attribut) myopathie d'origine métabolique (trouble) true Inferred relationship Some
Mitochondrial myopathy est un(e) (attribut) Mitochondrial cytopathy true Inferred relationship Some
Mitochondrial myopathy localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
paralysie périodique avec neuropathie motrice distale tardive est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
DNA2-related mitochondrial DNA deletion syndrome est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Myopathy and diabetes mellitus (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Maternally inherited mitochondrial myopathy (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial-lipid-glycogen storage myopathy est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Juvenile myopathy AND lactate acidosis est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Fukuhara syndrome (disorder) est un(e) (attribut) False Mitochondrial myopathy Inferred relationship Some
Mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
myopathie mitochondriale pure est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some
Lethal infantile mitochondrial myopathy (disorder) est un(e) (attribut) True Mitochondrial myopathy Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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