congenitale anomalie van X-chromosoom	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	X-gebonden hereditaire recessieve aandoening
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Xq27.3q28-duplicatiesyndroom (aandoening)
	Xq27.3q28-duplicatiesyndroom
	trisomie Xq27.3-q28
	Chromosome Xq27.3q28 duplication syndrome
	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Id	718881004
Status	Primitive

Associated morphology	partiële trisomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële trisomie
Finding site	structuur van X-chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

261483

SNOMED CT to ICD-10 extended map

Target	Q99.8
Rule	TRUE
Advice	ALWAYS Q99.8
Correlation	SNOMED CT source code to target map code correlation not specified