1269236003: Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Epileptic seizure\Generalised onset epileptic seizure\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Seizure\Epileptic seizure\Generalised onset epileptic seizure\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Neurological finding\Seizure related finding\Seizure\...
• \Epileptic seizure\Generalised onset epileptic seizure\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Genetic disease\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesemia\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Primary hypomagnesemia, refractory seizures, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5183289019	Primary hypomagnesemia, refractory seizures, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5183290011	Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5183291010	Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5183292015	A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5183293013	A rare genetic disorder of magnesium transport characterised by infantile onset of generalised seizures and severe hypomagnesaemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	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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