721088003: Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\DEND syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\DEND syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\DEND syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\DEND syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\DEND syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\DEND syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\DEND 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\DEND syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\DEND syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\DEND 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\DEND syndrome
• \Disease\Developmental disorder\Developmental delay\DEND syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323444010	Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323445011	Developmental delay, epilepsy, neonatal diabetes syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323446012	DEND syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323447015	DEND (developmental delay, epilepsy, neonatal diabetes) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323448013	A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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