aandoening met aanvallen	verstandelijke beperking
\|	\|

'purine rich element binding protein A'-syndroom (aandoening)
	'purine rich element binding protein A'-syndroom
	5q31.3-microdeletiesyndroom PURA-syndroom PURA-gerelateerd syndroom van ernstige neonatale hypotonie, insulten en encefalopathie
	PURA syndrome
	Purine rich element binding protein A syndrome PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome PURA (purine rich element binding protein A) syndrome PURA-related neurodevelopmental disorder
	A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.

Id	768473009
Status	Primitive

Finding site	structuur van encephalon
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

438213

SNOMED CT to ICD-10 extended map

Target	G40.4
Rule	TRUE
Advice	ALWAYS G40.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified