398187000: hereditaire motorische en sensorische neuropathie type 2 (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)

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

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 II (disorder)	Is a	Charcot-Marie-Tooth disease	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Nerve structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Neurological lesion	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Nerve structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Degenerative disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B2 (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2H (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B1 (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B5	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2R	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2O	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2P (disorder)	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IIA (disorder)	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
1766106011	Charcot-Marie-Tooth disease, type II (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1777741013	Charcot-Marie-Tooth disease, type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786162017	Inherited neuronal peroneal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786163010	Hereditary motor and sensory neuropathy type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786164016	Peroneal muscular atrophy of neuronal type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2966551016	Charcot Marie Tooth disease, type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11941000146112	hereditaire motorische en sensorische neuropathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11951000146110	hereditaire motorische en sensorische neuropathie type 2 [HMSN 2]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11961000146113	ziekte van Charcot-Marie-Tooth type 2 [CMT 2]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
88151000146119	ziekte van Charcot-Marie-Tooth type 2 [CMT2]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
88161000146116	hereditaire motorische en sensorische neuropathie type 2 [HMSN-2]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
973731000146118	hereditaire motorische en sensorische neuropathie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273931000146119	HMSN 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273941000146110	ziekte van Charcot-Marie-Tooth type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1273951000146113	CMT 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)