Autosomal dominant hereditary disorder	Congenital anomaly of lower trunk	Congenital anomaly of musculoskeletal structure of trunk	Congenital fusion of spine	Congenital ptosis of upper eyelid	Developmental hereditary disorder	Disorder of pelvic region of trunk	Disorder of vertebra	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Lesion of vertebra	Multiple system malformation syndrome
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Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
	Faulk Epstein Jones syndrome
	A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

Id	724064004
Status	Primitive

Associated morphology	Abnormally fused structure
Finding site	Bone structure of vertebra of lumbosacral junction
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Prolapse
Finding site	Upper eyelid structure
Occurrence	Congenital
Pathological process	Pathological developmental process

SNOMED CT to Orphanet simple map

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 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