1187621006: DnaJ heat shock protein family (Hsp40) member B2-related 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\DNAJB2-related Charcot-Marie-Tooth disease type 2

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\DNAJB2-related Charcot-Marie-Tooth disease type 2

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\DNAJB2-related 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\DNAJB2-related 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\DNAJB2-related 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\DNAJB2-related 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\DNAJB2-related Charcot-Marie-Tooth disease type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4674401018 DNAJB2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4674402013 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4674403015 DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4674404014 A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11858581000172115 neuropathie héréditaire sensitivomotrice de type 2 associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11858591000172117 maladie de Charcot-Marie-Tooth de type 2 associée à 'dnaJ heat shock protein family (Hsp40) member B2' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11858601000172110 CMT2 (Charcot-Marie-Tooth disease type 2) associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7275231000172117 'DnaJ/Hsp40 member B2'-gerelateerde 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)

7275241000172112 'DnaJ heat shock protein family (Hsp40) member B2'-gerelateerde motorische en sensorische neuropathie type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7275251000172114 DNAJB2-gerelateerde HMSN 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7275261000172111 DNAJB2-gerelateerde motorische en sensorische neuropathie type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7275271000172119 DNAJB2-gerelateerde CMT 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
DNAJB2-related Charcot-Marie-Tooth disease type 2	Is a	Autosomal recessive Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some
DNAJB2-related Charcot-Marie-Tooth disease type 2	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
DNAJB2-related Charcot-Marie-Tooth disease type 2	Finding site	Nerve structure	true	Inferred relationship	Some	1
DNAJB2-related Charcot-Marie-Tooth disease type 2	Associated morphology	Atrophy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4674401018	DNAJB2-related Charcot-Marie-Tooth disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674402013	DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674403015	DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674404014	A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11858581000172115	neuropathie héréditaire sensitivomotrice de type 2 associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11858591000172117	maladie de Charcot-Marie-Tooth de type 2 associée à 'dnaJ heat shock protein family (Hsp40) member B2'	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11858601000172110	CMT2 (Charcot-Marie-Tooth disease type 2) associée à DNAJB2 (dnaJ heat shock protein family (Hsp40) member B2)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7275231000172117	'DnaJ/Hsp40 member B2'-gerelateerde 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)
7275241000172112	'DnaJ heat shock protein family (Hsp40) member B2'-gerelateerde motorische en sensorische neuropathie type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7275251000172114	DNAJB2-gerelateerde HMSN 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7275261000172111	DNAJB2-gerelateerde motorische en sensorische neuropathie type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7275271000172119	DNAJB2-gerelateerde CMT 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)