40632002: hereditaire motorische en sensorische neuropathie type 1A (aandoening)

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)\Charcot-Marie-Tooth disease, type IA

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

\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)\Charcot-Marie-Tooth disease, type IA
\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)\Charcot-Marie-Tooth disease, type IA
\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)\Charcot-Marie-Tooth disease, type IA

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

67777019 Charcot-Marie-Tooth disease, type IA en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

777316010 Charcot-Marie-Tooth disease, type IA (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

11911000146111 hereditaire motorische en sensorische neuropathie type 1A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

932181000146114 hereditaire motorische en sensorische neuropathie type 1A (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1273741000146113 HMSN 1A nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1273751000146111 CMT 1A nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Charcot-Marie-Tooth disease, type IA	Is a	Charcot-Marie-Tooth disease, type I	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Nerve structure	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Is a	Charcot-Marie-Tooth disease, type I (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type IA	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type IA	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)