aandoening met aanvallen	genetische aandoening	magnesium in bloed onder referentiebereik	metabole nierziekte	primaire hypomagnesiëmie	renale tubulopathie	verstandelijke beperking
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Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome (disorder)
	Primary hypomagnesemia, generalized seizures, intellectual disability, obesity syndrome
	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.

Id	1351854006
Status	Primitive

Finding site

structuur van encephalon

Finding site

structuur van tubulus renalis

Pathological process

proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Has interpretation	onder referentiebereik
Interprets	bepalen van magnesium in bloed

SNOMED CT to ICD-10 extended map

Target	E83.4
Rule	TRUE
Advice	ALWAYS E83.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	N25.8
Rule	TRUE
Advice	ALWAYS N25.8
Correlation	SNOMED CT source code to target map code correlation not specified