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\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome

\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, lactic acidosis, deafness syndrome
\Disease\Myopathy\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 (IAG)\Metabolic acidosis, IAG, 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, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498427016 Mitochondrial myopathy, lactic acidosis, deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3498428014 Mitochondrial myopathy, lactic acidosis, hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core

3498429018 Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3499918019 A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninaemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. en Definition Active Case sensitive SNOMED CT core

3499919010 A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498427016	Mitochondrial myopathy, lactic acidosis, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498428014	Mitochondrial myopathy, lactic acidosis, hearing loss syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498429018	Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499918019	A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninaemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	en	Definition	Active	Case sensitive	SNOMED CT core
3499919010	A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	en	Definition	Active	Case sensitive	SNOMED CT core