782752005: Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

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

\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

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

\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Chronic disease of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755614011 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755615012 Peripheral neuropathy, myopathy, hoarseness, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755616013 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755617016 A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Chronic disease of ear	false	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Myoneural disorder	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Peripheral nerve disease	false	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Finding site	Peripheral nerve structure	false	Inferred relationship	Some	4
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Autosomal dominant distal hereditary motor neuropathy (disorder)	true	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	4
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Finding site	Nerve structure	true	Inferred relationship	Some	6
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	Chronic deafness	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
3755614011	Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755615012	Peripheral neuropathy, myopathy, hoarseness, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755616013	Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755617016	A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core