1177165005: Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\PMP2-related Charcot-Marie-Tooth disease type 1

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Charcot-Marie-Tooth disease, type I\PMP2-related Charcot-Marie-Tooth disease type 1

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\PMP2-related Charcot-Marie-Tooth disease type 1
\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\PMP2-related Charcot-Marie-Tooth disease type 1
\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\PMP2-related Charcot-Marie-Tooth disease type 1

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4643781018 PMP2-related Charcot-Marie-Tooth disease type 1 en Synonym Active Case sensitive SNOMED CT core

4643782013 Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

4643783015 Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 en Synonym Active Initial character case insensitive SNOMED CT core

4643786011 PMP2-related Charcot-Marie-Tooth neuropathy type 1 en Synonym Active Case sensitive SNOMED CT core

4643787019 PMP2-related hereditary motor and sensory neuropathy type 1 en Synonym Active Case sensitive SNOMED CT core

4643788012 A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. en Definition Active Case sensitive SNOMED CT core

4643789016 A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PMP2-related Charcot-Marie-Tooth disease type 1	Is a	Charcot-Marie-Tooth disease, type I	true	Inferred relationship	Some
PMP2-related Charcot-Marie-Tooth disease type 1	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4643781018	PMP2-related Charcot-Marie-Tooth disease type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
4643782013	Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4643783015	Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643786011	PMP2-related Charcot-Marie-Tooth neuropathy type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
4643787019	PMP2-related hereditary motor and sensory neuropathy type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
4643788012	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	en	Definition	Active	Case sensitive	SNOMED CT core
4643789016	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	en	Definition	Active	Case sensitive	SNOMED CT core