398100001: hereditaire motorische en sensorische neuropathie (aandoening)

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)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked hereditary motor and sensory neuropathy	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Déjérine-Sottas disease	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary sensory neuropathy	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary motor and sensory neuropathy with optic atrophy	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary motor and sensory neuropathy with retinitis pigmentosa	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
HSMN IV	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease	Is a	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
hereditaire motorische en sensorische neuropathie type 5	Is a	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Peroneal muscular atrophy NOS	Is a	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Roussy-Levy syndrome	Is a	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Andermann syndrome	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Family history of Charcot-Marie-Tooth disease (situation)	Associated finding	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 4 (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary thermosensitive neuropathy (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary motor and sensory neuropathy Okinawa type (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Is a	False	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant slowed nerve conduction velocity	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary motor and sensory neuropathy type 5 (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary motor and sensory neuropathy with acrodystrophy	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Family history of Charcot-Marie-Tooth disease (situation)	Associated finding	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some	1
Congenital axonal neuropathy with encephalopathy	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	Is a	True	Hereditary motor and sensory neuropathy (disorder)	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1766019012	Hereditary motor and sensory neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1777664015	Hereditary motor and sensory neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786097018	Hereditary sensory and motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786098011	Hereditary sensory-motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786099015	HSMN	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786100011	HMSN	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786101010	HMSN - Hereditary motor and sensory neuropathy	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786102015	HSMN - Hereditary sensory and motor neuropathy	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786103013	Hereditary sensorimotor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3007425011	CMT - Charcot-Marie-Tooth disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244173019	HMSN - hereditary motor and sensory neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244174013	HSMN - hereditary sensory and motor neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12591000146116	hereditaire motorische en sensorische neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12601000146114	hereditaire motorische en sensorische neuropathie [HMSN]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12611000146111	ziekte van Charcot-Marie-Tooth [CMT]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
973681000146114	hereditaire motorische en sensorische neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273621000146112	ziekte van Charcot-Marie-Tooth	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273631000146114	CMT	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13672641000146119	HMSN	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7584091000146119	Hereditaire motorische en sensorische neuropathieën (HMSN) zijn zenuwaandoeningen (neuropathieën), die erfelijk (hereditair) zijn en gevolgen hebben voor het kunnen voelen (sensorisch) en bewegen (motorisch).	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)