711409002: 3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom (aandoening)

SNOMED CT Concept\klinische bevinding (bevinding)\...

\Ear and auditory finding\aandoening van auditief systeem\Auditory system hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)

\bevinding betreffende functioneren (bevinding)\Finding of sensory function\...

\Disorder of sensory function (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)

\bevinding betreffende gehoor\gehoorstoornis (aandoening)\...

\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)

\Hearing loss (disorder)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Hearing loss (disorder)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)

\Disease\genetische aandoening\hereditaire aandoening\hereditaire stoornis van metabolisme (aandoening)\3-methylglutaconacidurie type 4\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\hereditaire stoornis van metabolisme (aandoening)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\hereditaire stoornis van metabolisme (aandoening)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Auditory system hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-methylglutaconacidurie type 4\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Auditory system hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\Auditory system hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\congenitale neuropathie\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Metabolic disease\hereditaire stoornis van metabolisme (aandoening)\3-methylglutaconacidurie type 4\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Metabolic disease\hereditaire stoornis van metabolisme (aandoening)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Metabolic disease\hereditaire stoornis van metabolisme (aandoening)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\stoornis van aminozuurmetabolisme (aandoening)\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria\3-methylglutaconacidurie type 4\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Congenital disease\congenitale neuropathie\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Congenital disease\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3078404018	MEGDEL syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3078412014	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3078491018	3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6930541000146110	3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6930551000146113	3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6979691000146111	MEGDEL-syndroom	nl	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
3084102011	A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.	en	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Disorder of mitochondrial respiratory chain complexes	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Auditory system hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	ontwikkelingsstoornis	false	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	locatie van bevinding	Structure of nervous system (body structure)	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	locatie van bevinding	structuur van auditief systeem (lichaamsstructuur)	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	interpreteert	Hearing, function (observable entity)	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Inherited metabolic disorder of nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	Disorder of sensory function (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	3-methylglutaconacidurie type 4	true	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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