782737003: Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Finding of head region\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755544016	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755545015	Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755442015	A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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