1237418002: Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Finding of brain\Disorder of brain (disorder)\...
• \Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099072010	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099073017	ASCT1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099074011	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099075012	Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099076013	A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099077016	A rare neurometabolic disorder due to serine deficiency characterised by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioural abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13680061000172111	syndroom van spastische tetraplegie, dun corpus callosum en progressieve postnatale microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13680071000172119	ASCT1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13680081000172116	syndroom van spastische quadriplegie, dun corpus callosum en progressieve postnatale microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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