1156852009: Autosomal recessive 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 recessive Charcot-Marie-Tooth disease type 2

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576330010 Autosomal recessive Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4576331014 Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

10009701000172112 maladie de Charcot-Marie-Tooth autosomique récessive de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4219171000172113 autosomaal recessieve 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)

4219181000172111 autosomaal recessieve motorische en sensorische neuropathie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4219191000172114 autosomaal recessieve CMT2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive Charcot-Marie-Tooth disease type 2	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	Finding site	Nerve structure	true	Inferred relationship	Some	1
Autosomal recessive Charcot-Marie-Tooth disease type 2	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Autosomal recessive Charcot-Marie-Tooth disease type 2	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive 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
Charcot-Marie-Tooth disease type 2T (disorder)	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B5	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2R	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B2 (disorder)	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2H (disorder)	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B1 (disorder)	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2X	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2S	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some
DNAJB2-related Charcot-Marie-Tooth disease type 2	Is a	True	Autosomal recessive Charcot-Marie-Tooth disease type 2	Inferred relationship	Some

This concept is not in any reference sets