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

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Peripheral neuropathy due to metabolic 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\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\Encephalopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\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\Encephalopathy\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\Myopathy\Disorder of skeletal muscle\...

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

\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\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\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\Neurological disorder\Neuropathy\Metabolic neuropathy\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Peripheral neuropathy due to metabolic disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
\Disease\Disorder of head\Encephalopathy\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 neuropathy\Peripheral neuropathy due to metabolic 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3643290017 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome en Synonym Active Case insensitive SNOMED CT core

3643291018 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Due to	Coenzyme Q10 deficiency	true	Inferred relationship	Some	5
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Congenital disease	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	true	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	Peripheral neuropathy due to metabolic 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

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643289014	Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643290017	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643291018	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core