782825008: Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756085012	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3756086013	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756087016	A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21.	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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