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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Finding of neonate\Neonatal disorder\...
• \Neonatal disorder of endocrine system (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Neonatal metabolic disorder (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Genetic disease\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal disorder of endocrine system (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Neonatal disorder of endocrine system (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function (disorder)\Neonatal diabetes mellitus\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function (disorder)\Neonatal diabetes mellitus\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323445011	Developmental delay, epilepsy, neonatal diabetes syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323446012	DEND syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323447015	DEND (developmental delay, epilepsy, neonatal diabetes) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402595013	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402596014	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterised by a triad of developmental delay, epilepsy, and neonatal diabetes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323444010	Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323444010	Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323445011	Developmental delay, epilepsy, neonatal diabetes syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323445011	Developmental delay, epilepsy, neonatal diabetes syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323446012	DEND syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323447015	DEND (developmental delay, epilepsy, neonatal diabetes) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402595013	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402596014	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterised by a triad of developmental delay, epilepsy, and neonatal diabetes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452941001000115	DEND-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075001000241119	syndrome DEND (developmental delay, epilepsy, neonatal diabetes)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075011000241117	syndrome de retard de développement, épilepsie et diabète néonatal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075001000241119	syndrome DEND (developmental delay, epilepsy, neonatal diabetes)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075011000241117	syndrome de retard de développement, épilepsie et diabète néonatal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452941001000115	DEND-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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