111499002: hereditaire motorische en sensorische neuropathie type 3 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Déjérine-Sottas disease
\Disease\Degenerative disorder\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Déjérine-Sottas disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Déjérine-Sottas disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Déjérine-Sottas disease
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Hypertrophic interstitial neuropathy\Déjérine-Sottas disease

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
Déjérine-Sottas disease	Is a	Hereditary motor and sensory neuropathy	false	Inferred relationship	Some
Déjérine-Sottas disease	Is a	Hypertrophic interstitial neuropathy	true	Inferred relationship	Some
Déjérine-Sottas disease	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	2
Déjérine-Sottas disease	Finding site	Nerve structure	false	Inferred relationship	Some
Déjérine-Sottas disease	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Déjérine-Sottas disease	Is a	Neuropathy	false	Inferred relationship	Some
Déjérine-Sottas disease	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Déjérine-Sottas disease	Is a	Neuropathy (disorder)	false	Inferred relationship	Some
Déjérine-Sottas disease	Finding site	Neurilemma	false	Inferred relationship	Some	1
Déjérine-Sottas disease	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Déjérine-Sottas disease	Finding site	Neurilemma	false	Inferred relationship	Some	1
Déjérine-Sottas disease	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Déjérine-Sottas disease	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	1
Déjérine-Sottas disease	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	2
Déjérine-Sottas disease	Associated morphology	Remyelination	true	Inferred relationship	Some	1
Déjérine-Sottas disease	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	3
Déjérine-Sottas disease	Associated morphology	Segmental demyelination	true	Inferred relationship	Some	3
Déjérine-Sottas disease	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Roussy-Levy syndrome	Is a	False	Déjérine-Sottas disease	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
178741012	Déjérine-Sottas disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
187822012	Hereditary sensory-motor neuropathy, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
187823019	Hereditary hypertrophic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187824013	Dejerine-Sottas disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
187825014	Progressive hypertrophic interstitial neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
199738016	Hereditary motor and sensory neuropathy, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
199739012	HSMN III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
199740014	HMSN III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
632191012	Déjérine-Sottas disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1219654012	Hypertrophic hereditary neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1219655013	Hereditary motor and sensory neuropathy type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1219656014	Hypertrophic demyelinative neuropathy of infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011887018	Charcot-Marie-Tooth disease type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
88181000146112	hereditaire motorische en sensorische neuropathie type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
88191000146114	hereditaire hypertrofische neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
949531000146111	hereditaire motorische en sensorische neuropathie type 3 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273991000146118	HMSN 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)