733071009: Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Deafness, small bowel diverticulosis, neuropathy syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Deafness, small bowel diverticulosis, neuropathy syndrome

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome

\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome

\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Sensory neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of head\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness, small bowel diverticulosis, neuropathy syndrome
\Disease\Disorder of soft tissue\Peripheral neuropathy\Peripheral sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498675015 Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498676019 Deafness, small bowel diverticulosis, neuropathy syndrome en Synonym Active Case insensitive SNOMED CT core

3498677011 Groll Hirschowitz syndrome en Synonym Active Case sensitive SNOMED CT core

3499959013 Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Peripheral sensory neuropathy	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Hereditary sensory neuropathy	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Disorder of gastrointestinal tract	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Peripheral neuropathy	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Deafness, small bowel diverticulosis, neuropathy syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Deafness, small bowel diverticulosis, neuropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Deafness, small bowel diverticulosis, neuropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	7
Deafness, small bowel diverticulosis, neuropathy syndrome	Finding site	Gastrointestinal tract structure	true	Inferred relationship	Some	7
Deafness, small bowel diverticulosis, neuropathy syndrome	Finding site	Ear structure	true	Inferred relationship	Some	5
Deafness, small bowel diverticulosis, neuropathy syndrome	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498675015	Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498676019	Deafness, small bowel diverticulosis, neuropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498677011	Groll Hirschowitz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499959013	Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core