725047007: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (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\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

\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\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
\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\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
\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\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
\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\A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5403377015 A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3437442017 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437443010 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3437444016 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

895881000172115 ARCMT2K - autosomal recessive Charcot-Marie-Tooth disease type 2K fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

901291000172111 maladie de Charcot-Marie-Tooth autosomique récessive avec raucité de la voix fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3410891001000114 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, mit Heiserkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Is a	Charcot-Marie-Tooth disease, type II (disorder)	false	Inferred relationship	Some
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Associated morphology	Atrophy	true	Inferred relationship	Some	2
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Finding site	Nerve structure	true	Inferred relationship	Some	2
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Is a	Autosomal recessive Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)