hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	hypoplasie van cerebellum	verstandelijke beperking	X-gebonden hereditaire dominante aandoening
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X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum (aandoening)
	X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum
	X-gebonden syndroom van mentale retardatie en hypoplasie van cerebellum Oligophrenin-1-syndroom X-gebonden syndroom van verstandelijke handicap en hypoplasie van cerebellum OPHN1-syndroom
	X-linked intellectual disability with cerebellar hypoplasia syndrome
	Oligophrenin-1 syndrome OPHN1 syndrome
	X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

Id	719136005
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van cerebellum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q04.3
Term	Overige onderontwikkeling van hersenen

SNOMED CT to Orphanet simple map

137831

SNOMED CT to ICD-10 extended map

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified