770725000: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disorder of head\Encephalopathy\...
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \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\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \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\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Developmental disorder\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702257012	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3702258019	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702259010	A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11.	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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