782737003: syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\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
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
• \Disease\Developmental disorder\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
8502831000146112	syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8502841000146116	syndroom van diffuse cerebrale en cerebellaire atrofie, therapieresistente epilepsie en progressieve microcefalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

This concept is not in any reference sets

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