782881002: Hereditary sensorimotor neuropathy with hyperelastic skin (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 sensorimotor neuropathy with hyperelastic skin (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
\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 sensorimotor neuropathy with hyperelastic skin (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756536011 Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756537019 Hereditary sensorimotor neuropathy with hyperelastic skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756538012 A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12731261000172116 neuropathie sensitivomotrice héréditaire avec hyperélasticité cutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12731271000172113 maladie de Charcot-Marie-Tooth avec hyperélasticité cutanée fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12731281000172111 maladie de CMT (Charcot-Marie-Tooth) avec peau hyperélastique fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4392421000172118 CMT met hyperelastische huid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4392431000172115 HMSN met hyperelastische huid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4392441000172110 hereditaire motorische en sensorische neuropathie met hyperelastische huid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4392451000172112 ziekte van Charcot-Marie-Tooth met hyperelastische huid nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4392461000172114 erfelijke sensorimotorische neuropathie met hyperelastische huid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3756536011	Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756537019	Hereditary sensorimotor neuropathy with hyperelastic skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756538012	A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12731261000172116	neuropathie sensitivomotrice héréditaire avec hyperélasticité cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12731271000172113	maladie de Charcot-Marie-Tooth avec hyperélasticité cutanée	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12731281000172111	maladie de CMT (Charcot-Marie-Tooth) avec peau hyperélastique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4392421000172118	CMT met hyperelastische huid	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4392431000172115	HMSN met hyperelastische huid	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4392441000172110	hereditaire motorische en sensorische neuropathie met hyperelastische huid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4392451000172112	ziekte van Charcot-Marie-Tooth met hyperelastische huid	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4392461000172114	erfelijke sensorimotorische neuropathie met hyperelastische huid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)