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

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

\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

\Ear, nose and throat finding\Ear finding\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

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

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

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

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

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

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Sensory neuropathy\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Sensory neuropathy\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3498676019 Deafness, small bowel diverticulosis, neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498677011 Groll Hirschowitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403714015 A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403715019 A rare neurologic disease characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. 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
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Hereditary sensory neuropathy	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Disorder of gastrointestinal tract (disorder)	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Peripheral nerve disease	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Finding site	Gastrointestinal tract structure	true	Inferred relationship	Some	7
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	6
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Peripheral sensory neuropathy (disorder)	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498675015	Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498676019	Deafness, small bowel diverticulosis, neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498677011	Groll Hirschowitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403714015	A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403715019	A rare neurologic disease characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core