1156835005: Autosomal dominant Charcot-Marie-Tooth disease type 2 (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2

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

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2

\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
\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
\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
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2O	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2W	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Z	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2DD	Is a	True	Autosomal dominant Charcot-Marie-Tooth disease type 2	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576294017	Autosomal dominant Charcot-Marie-Tooth disease type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576295016	Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
10061881000172111	maladie de Charcot-Marie-Tooth autosomique dominante de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5123101000172119	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5123111000172116	autosomaal dominante motorische en sensorische neuropathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5123121000172114	autosomaal dominante CMT2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)