778003000: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological finding\Sensory nervous system finding\...

\Finding of sensation by site (finding)\Pain finding at anatomical site\Neurogenic pain\Neuropathic pain\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

\Pain / sensation finding\Pain\Pain finding at anatomical site\Neurogenic pain\Neuropathic pain\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3736372011 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3736373018 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3736374012 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3736375013 A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paraesthesia in toes, heels and ankles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

882411000172116 maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

987501000172113 autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth met neuropathische pijn 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 dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	Disorder characterized by pain	false	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	Neuropathic pain	true	Inferred relationship	Some

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
3736372011	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736373018	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736374012	A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3736375013	A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paraesthesia in toes, heels and ankles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
882411000172116	maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
987501000172113	autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth met neuropathische pijn	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)