398040009: Charcot-Marie-Tooth disease, type I (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 I (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Charcot-Marie-Tooth disease, type I (disorder)

\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 I (disorder)
\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 I (disorder)
\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 I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1765959019 Charcot-Marie-Tooth disease, type I (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1777611019 Charcot-Marie-Tooth disease, type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1786062015 Hereditary sensory-motor neuropathy, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1786063013 Peroneal muscular atrophy of demyelinating type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786064019 Inherited dominant hypertrophic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786065018 Hereditary motor and sensory neuropathy type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1786066017 Charcot-Marie-Tooth disease of demyelinating type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1786067014 HSMN, type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2966574017 Charcot Marie Tooth disease, type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Charcot-Marie-Tooth disease	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type I (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Charcot-Marie-Tooth disease, type IA	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IC (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IB	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type IE (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type ID (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type IF (disorder)	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some
PMP2-related Charcot-Marie-Tooth disease type 1	Is a	True	Charcot-Marie-Tooth disease, type I (disorder)	Inferred relationship	Some

This concept is not in any reference sets