Congenital anomaly of skeletal bone	Congenital anomaly of visual system	Congenital macrocephaly	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Skeletal dysplasia
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Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)
	Heide syndrome
	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome
	This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
	syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht
	syndroom van Heide

Id	716189005
Status	Primitive

Associated morphology	Enlargement
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Morphologically abnormal structure
Finding site	Structure of visual system
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Above reference range
Interprets	Head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified