230248006: scapuloperoneale spinale spieratrofie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy

\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Scapuloperoneal spinal muscular atrophy

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

345061018 Scapuloperoneal spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618030011 Scapuloperoneal spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13681000146111 scapuloperoneale spinale spieratrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13691000146113 spieratrofie van Stark-Kaiser nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

957911000146119 scapuloperoneale spinale spieratrofie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Scapuloperoneal spinal muscular atrophy	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Scapuloperoneal spinal muscular atrophy	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Scapuloperoneal spinal muscular atrophy	Finding site	Motor neuron	false	Inferred relationship	Some
Scapuloperoneal spinal muscular atrophy	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Scapuloperoneal spinal muscular atrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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