Deletion of part of long arm of chromosome 12	Intellectual disability	Osteopoikilosis	Short stature disorder
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12q14 microdeletion syndrome (disorder)
	12q14 microdeletion syndrome
	Monosomy 12q14 Osteopoikilosis with short stature and intellectual disability syndrome
	This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
	12q14-microdeletiesyndroom
	syndroom van osteopathia condensans disseminata met kleine lengte en verstandelijke beperking deletie 12q14 syndroom van osteopoikilose met kleine gestalte en intellectuele achterstand monosomie 12q14

Id	719046005
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 12
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial monosomy
Finding site	Long arm of chromosome
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Above reference range
Interprets	Bone density scan

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified