FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

16851005: Mitochondrial myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

28528010 Mitochondrial myopathy en Synonym Active Case insensitive SNOMED CT core

28529019 Ragged red myopathy en Synonym Active Case insensitive SNOMED CT core

743956014 Mitochondrial myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial myopathy	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Mitochondrial myopathy	Is a	Myopathy	false	Inferred relationship	Some
Mitochondrial myopathy	Is a	Metabolic myopathy	true	Inferred relationship	Some
Mitochondrial myopathy	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Mitochondrial myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinaemia	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Periodic paralysis with later-onset distal motor neuropathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Myopathy and diabetes mellitus	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial-lipid-glycogen storage myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Juvenile myopathy AND lactate acidosis	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Fukuhara syndrome	Is a	False	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial encephalomyopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
TMEM70 related mitochondrial encephalo-cardio-myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy with sideroblastic anaemia syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Pure mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Mitochondrial myopathy	Inferred relationship	Some
Lethal infantile mitochondrial myopathy	Is a	True	Mitochondrial myopathy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
28528010	Mitochondrial myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
28529019	Ragged red myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
743956014	Mitochondrial myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core