11442006: Hereditary sensory neuropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\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

\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
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Sensory neuropathy\Hereditary sensory neuropathy
\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
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

19796013 Hereditary sensory neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

19798014 Posterior sensory radicular neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

658866014 Hereditary sensory neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4427291000241112 neuropathie sensitive héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sensory neuropathy	Is a	Hereditary motor and sensory neuropathy	false	Inferred relationship	Some
Hereditary sensory neuropathy	Is a	Sensory neuropathy	true	Inferred relationship	Some
Hereditary sensory neuropathy	Finding site	Nerve structure	true	Inferred relationship	Some	1
Hereditary sensory neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Hereditary sensory neuropathy	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked recessive sensory neuropathy	Is a	True	Hereditary sensory neuropathy	Inferred relationship	Some
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.	Is a	True	Hereditary sensory neuropathy	Inferred relationship	Some
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.	Is a	True	Hereditary sensory neuropathy	Inferred relationship	Some

This concept is not in any reference sets