FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

5217008: Stiff person spectrum disorder (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1231087015 Moersch-Woltman syndrome en Synonym Active Case sensitive SNOMED CT core
1231088013 Stiff man syndrome en Synonym Active Case insensitive SNOMED CT core
5014649018 Stiff person spectrum disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5014653016 Stiff person spectrum disorder en Synonym Active Case insensitive SNOMED CT core
5014654010 Stiff-person syndrome en Synonym Active Case insensitive SNOMED CT core
9742014 Stiff-man syndrome en Synonym Active Case insensitive SNOMED CT core
9744010 Gamma neuron overactivity syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start