230249003: Facioscapulohumeral spinal muscular atrophy (disorder)

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\Facioscapulohumeral spinal muscular atrophy

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

345062013 Facioscapulohumeral spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618031010 Facioscapulohumeral spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5823571000172114 amyotrophie spinale facio-scapulo-humeral fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4415241000172113 facioscapulohumerale spinale spieratrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Facioscapulohumeral spinal muscular atrophy	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Facioscapulohumeral spinal muscular atrophy	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Facioscapulohumeral spinal muscular atrophy	Finding site	Motor neuron	false	Inferred relationship	Some
Facioscapulohumeral spinal muscular atrophy	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Facioscapulohumeral spinal muscular atrophy with sensory loss	Is a	True	Facioscapulohumeral spinal muscular atrophy	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set