1351854006: Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of blood substance level\...

\Blood substance level below reference range (finding)\Blood magnesium below reference range (finding)\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Blood magnesium outside reference range\Blood magnesium below reference range (finding)\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Measurement finding outside reference range\Measurement finding below reference range (finding)\Blood substance level below reference range (finding)\Blood magnesium below reference range (finding)\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Measurement finding outside reference range\Blood magnesium outside reference range\Blood magnesium below reference range (finding)\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

\Disease\Genetic disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity 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 hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Metabolic disease\Metabolic disorder of transport\Primary hypomagnesemia\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Metabolic disease\Metabolic renal disease\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5415491016 Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5415492011 Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5415493018 Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5415494012 A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5415495013 A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Metabolic renal disease	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Blood magnesium below reference range (finding)	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Primary hypomagnesemia	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Is a	Renal tubular disorder	true	Inferred relationship	Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Finding site	Brain structure	true	Inferred relationship	Some	5
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	6
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	1
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	1
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	2
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Interprets	Blood magnesium measurement (procedure)	true	Inferred relationship	Some	3
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5415491016	Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415492011	Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415493018	Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415494012	A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415495013	A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core