5217008: Stiff person spectrum disorder (disorder)

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\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.
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\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.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\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.

\Finding of movement\Movement disorder\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.

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

\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\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.
\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\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.
\Disease\Movement disorder\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.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Disorders of spinal neurones manifest by hyperactivity\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.

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

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

9742014 Stiff-man syndrome en Synonym (core metadata concept) Active Entire term case insensitive (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

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

1742821000005116 Stiff-man syndrome da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

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

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Id	Description	Lang	Type	Status	Case?	Module
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
9742014	Stiff-man syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (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
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
1742821000005116	Stiff-man syndrome	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)