hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	spondylodysplastische aandoening	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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X-gebonden syndroom met skeletdysplasie en verstandelijke beperking (aandoening)
	X-gebonden syndroom met skeletdysplasie en verstandelijke beperking
	syndroom van Christian X-gebonden syndroom van skeletdysplasie en verstandelijke handicap X-gebonden syndroom van skeletdysplasie en mentale retardatie
	Skeletal dysplasia with intellectual disability syndrome
	Christian syndrome
	A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.

Id	722478008
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur
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	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

SNOMED CT to Orphanet simple map

1436

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified