717010007: autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	Charcot-Marie-Tooth disease, type II (disorder)	false	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Finding site	Nerve structure	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	Autosomal dominant Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some

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
3308175016	Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308176015	Autosomal dominant Charcot-Marie-Tooth disease type 2C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6145431000146112	autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6145451000146118	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6145461000146115	autosomaal dominante hereditaire motorische en sensorische neuropathie type 2C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6826621000146113	autosomaal dominante HMSN 2C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6826631000146110	autosomaal dominante CMT 2C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3308177012	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core