algehele ontwikkelingsachterstand	autosomaal recessieve hereditaire aandoening	ernstige verstandelijke beperking	hereditaire ontwikkelingsstoornis	stoornis van slaap-waakritme
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neurexine 1-gerelateerd syndroom van ernstige neurobiologische ontwikkelingsstoornis, motorische stereotypie, chronische obstipatie en stoornis van slaap-waakritme (aandoening)
	NRXN1-gerelateerd syndroom van ernstige neurobiologische ontwikkelingsstoornis, motorische stereotypie, chronische obstipatie en stoornis van slaap-waakritme
	neurexine 1-gerelateerd syndroom van ernstige neurobiologische ontwikkelingsstoornis, motorische stereotypie, chronische obstipatie en stoornis van slaap-waakritme NRXN1-gerelateerd syndroom van ernstige neurologische ontwikkelingsstoornis, motorische stereotypie, chronische constipatie en slaap-waakstoornis
	NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
	NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
	A rare genetic neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. The disorder is caused by homozygous or compound heterozygous intragenic deletions or truncating variants in the NRXN1 gene (2p16.3). NRXN1 belongs to the evolutionarily conserved family of neurexins, presynaptic transmembrane proteins and has an important role in synaptic function. Inheritance is autosomal recessive.

Id	1300131002
Status	Primitive

Pathological process

proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

SNOMED CT to ICD-10 extended map

Target	G96.8
Rule	TRUE
Advice	ALWAYS G96.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F89
Rule	TRUE
Advice	ALWAYS F89
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F80.1
Rule	TRUE
Advice	ALWAYS F80.1
Correlation	SNOMED CT source code to target map code correlation not specified