5217008: 'stiff person'-syndroom (aandoening)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)

\Finding of movement (finding)\Movement disorder\Stiff person spectrum disorder (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Disorder of nerve root and/or plexus\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)
\Disease\Movement disorder\Stiff person spectrum disorder (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\Stiff person spectrum disorder (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stiff person spectrum disorder (disorder)	Is a	Movement disorder	true	Inferred relationship	Some
Stiff person spectrum disorder (disorder)	Is a	Disorders of spinal neurones manifest by hyperactivity	true	Inferred relationship	Some
Stiff person spectrum disorder (disorder)	Finding site	Brain structure	false	Inferred relationship	Some
Stiff person spectrum disorder (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Stiff person spectrum disorder (disorder)	Is a	Encephalomyelopathy (disorder)	false	Inferred relationship	Some
Stiff person spectrum disorder (disorder)	Finding site	Structure of nerve root and/or plexus	true	Inferred relationship	Some	2
Stiff person spectrum disorder (disorder)	Interprets	Movement	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive encephalomyelitis with rigidity and myoclonus (disorder)	Is a	True	Stiff person spectrum disorder (disorder)	Inferred relationship	Some

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
9742014	Stiff-man syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9743016	Moersch-Woltmann syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
9744010	Gamma neuron overactivity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790150016	Stiff-man syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231087015	Moersch-Woltman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231088013	Stiff man syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5014649018	Stiff person spectrum disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5014653016	Stiff person spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5014654010	Stiff-person syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13801000146115	stiff-man syndrome	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13811000146118	stiff-person syndrome	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1837851000146116	‘stiff person’-syndroom (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1837861000146118	Moersch-Woltmann-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1837871000146112	‘stiff person’-syndroom	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4969131000146115	'stiff person'-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4969141000146111	'stiff person'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5014655011	A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. Age of onset peaks around 45 and symptoms develop over months or years. Progressive muscle stiffness renders the trunk and hips immobile and the gait becomes stiff and awkward. The presence of antibodies against glutamic acid decarboxylase (GAD-Abs) in more than 70% of cases suggests an autoimmune pathogenesis. GAD-Abs may block synthesis of the inhibitory neurotransmitter, gamma-aminobutyric acid (GABA) thereby attenuating inhibition of spinal motoneurones.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core