11442006: Hereditary sensory neuropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\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)

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked recessive sensory neuropathy	Is a	True	Hereditary sensory neuropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome	Is a	True	Hereditary sensory neuropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised 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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
19796013	Hereditary sensory neuropathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
4427291000241112	neuropathie sensitive héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module