732951005: Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Sensorineural hearing loss\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap\Metabolic acidosis, increased anion gap, accumulation of organic acids\Lactic acidosis\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498427016 Mitochondrial myopathy, lactic acidosis, deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498428014 Mitochondrial myopathy, lactic acidosis, hearing loss syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498429018 Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	Mitochondrial myopathy	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	Lactic acidosis	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	2
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Interprets	Hearing, function	false	Inferred relationship	Existential restriction modifier	3
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	4
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	2
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	1

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
3498427016	Mitochondrial myopathy, lactic acidosis, deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498428014	Mitochondrial myopathy, lactic acidosis, hearing loss syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498429018	Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module