40632002: Charcot-Marie-Tooth disease, type IA (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)\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 (disorder)\Hereditary disorder of nervous system (disorder)\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\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\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\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\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	Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type IA	Finding site	Nerve structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease, type IA	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease, type IA	Is a	Charcot-Marie-Tooth disease, type I (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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
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	Only initial character case insensitive (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
3437541001000114	Charcot-Marie-Tooth-Krankheit Typ 1A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
937751000172111	CMT1A - Charcot-Marie-Tooth disease type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956941000172114	maladie de Charcot-Marie-Tooth type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
937751000172111	CMT1A - Charcot-Marie-Tooth disease type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956941000172114	maladie de Charcot-Marie-Tooth type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437541001000114	Charcot-Marie-Tooth-Krankheit Typ 1A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module