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

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\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\Disorder of auditory system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Functional finding\Hearing 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 skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\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\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\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\Neuropathy\Disorder of nerve due to metabolic disease\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\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\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of head\Disorder of ear\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Congenital disease\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3643289014 Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3643290017 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3643291018 Deafness, encephaloneuropathy, obesity, valvulopathy 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
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Due to	Coenzyme Q10 deficiency	true	Inferred relationship	Existential restriction modifier	5
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Peripheral neuropathy due to metabolic disorder	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Existential restriction modifier	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	6
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Disorder of ear	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier

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	Active	Entire term case insensitive	SNOMED CT core module
3643290017	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643291018	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module