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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\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 (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\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 (finding)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\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 (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (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 (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\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\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Sensory neuropathy\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Sensory neuropathy\Hereditary sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Deafness, small bowel diverticulosis, neuropathy syndrome
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral sensory neuropathy (disorder)\Deafness, small bowel diverticulosis, neuropathy syndrome

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
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
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	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
3433941001000112	Schwerhörigkeit - Dündarm-Divertikulose - Neuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5490741000241111	syndrome de Groll Hirschowitz	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5490741000241111	syndrome de Groll Hirschowitz	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433941001000112	Schwerhörigkeit - Dündarm-Divertikulose - Neuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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