782757004: Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755636014	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755637017	Asparagine synthetase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3755638010	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755639019	A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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