398040009: Charcot-Marie-Tooth disease, type I (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)\Charcot-Marie-Tooth disease, type I (disorder)

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

\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)
\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)
\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)

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
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Charcot-Marie-Tooth disease	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Charcot-Marie-Tooth disease, type IA	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IC (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IB	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type IE (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type ID (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type IF (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
PMP2-related Charcot-Marie-Tooth disease type 1	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1765959019	Charcot-Marie-Tooth disease, type I (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1777611019	Charcot-Marie-Tooth disease, type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786062015	Hereditary sensory-motor neuropathy, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786063013	Peroneal muscular atrophy of demyelinating type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786064019	Inherited dominant hypertrophic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786065018	Hereditary motor and sensory neuropathy type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786066017	Charcot-Marie-Tooth disease of demyelinating type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786067014	HSMN, type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2966574017	Charcot Marie Tooth disease, type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
368251000172118	neuropathie sensitivomotrice héréditaire type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
617961000172116	neuropathie sensitivomotrice héréditaire de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2234231000172119	neuropathie hypertrophique, type Charcot-Marie-Tooth	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
255151000172115	hereditaire motorische en sensorische neuropathie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2234221000172117	hypertrofische Charcot-Marie-Tooth neuropathie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)