40632002: hereditaire motorische en sensorische neuropathie type 1A (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)\Charcot-Marie-Tooth disease, type I (disorder)\Charcot-Marie-Tooth disease, type IA

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Charcot-Marie-Tooth disease, type I (disorder)\Charcot-Marie-Tooth disease, type IA

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type I (disorder)\Charcot-Marie-Tooth disease, type IA
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type I (disorder)\Charcot-Marie-Tooth disease, type IA
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type I (disorder)\Charcot-Marie-Tooth disease, type IA

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
Charcot-Marie-Tooth disease, type IA	Is a	Charcot-Marie-Tooth disease, type I	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Nerve structure	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Is a	Charcot-Marie-Tooth disease, type I (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
67777019	Charcot-Marie-Tooth disease, type IA	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
777316010	Charcot-Marie-Tooth disease, type IA (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11911000146111	hereditaire motorische en sensorische neuropathie type 1A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11921000146118	hereditaire motorische en sensorische neuropathie type 1A [HMSN 1A]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11931000146116	ziekte van Charcot-Marie-Tooth type 1A [CMT 1A]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
98861000146110	hereditaire motorische en sensorische neuropathie type 1A [HMSN-1A]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
98871000146116	ziekte van Charcot-Marie-Tooth type 1A [CMT-1A]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
932181000146114	hereditaire motorische en sensorische neuropathie type 1A (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273741000146113	HMSN 1A	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273751000146111	CMT 1A	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)