763688008: Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...

\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

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

\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Disorder of nerve due to metabolic disease (disorder)\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643289014 Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643290017 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643291018 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643294014 A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4164271000052113 syndrom med dövhet, encefaloneuropati, fetma och valvulopati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

5680851000052116 syndrom med dövhet, encefaloneuropati, obesitas och valvulopati 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
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Due to	Coenzyme Q10 deficiency (disorder)	true	Inferred relationship	Some	5
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Myoneural disorder	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Mitochondrial encephalomyopathy (disorder)	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Peripheral neuropathy due to metabolic disorder (disorder)	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Interprets	Hearing	true	Inferred relationship	Some	6
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Central nervous system complication	true	Inferred relationship	Some

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
3643289014	Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643290017	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643291018	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643294014	A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4164271000052113	syndrom med dövhet, encefaloneuropati, fetma och valvulopati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
5680851000052116	syndrom med dövhet, encefaloneuropati, obesitas och valvulopati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)