1222644009: Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance

\Chronic disease of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Metabolic disease\Chronic metabolic disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Chronic disease\Chronic metabolic disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5048276010 Autosomal dominant mitochondrial myopathy with exercise intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048277018 Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048278011 A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterised by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidaemia and increased serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048279015 A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5621731000052119 autosomalt dominant mitokondriell myopati med belastningsintolerans sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	Mitochondrial myopathy	true	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant mitochondrial myopathy with exercise intolerance	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Autosomal dominant mitochondrial myopathy with exercise intolerance	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5048276010	Autosomal dominant mitochondrial myopathy with exercise intolerance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048277018	Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048278011	A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterised by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidaemia and increased serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048279015	A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5621731000052119	autosomalt dominant mitokondriell myopati med belastningsintolerans	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)