autosomaal dominante hereditaire aandoening	bevinding betreffende wervel	congenitale afwijking van bewegingsapparaat van romp	congenitale afwijking van onderste gedeelte van romp	congenitale fusie van wervelkolom	congenitale ptosis van ooglid	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van posterieure fusie van lumbosacrale wervels en ptosis van ooglid (aandoening)
	syndroom van posterieure fusie van lumbosacrale wervels en ptosis van ooglid
	syndroom van Faulk-Epstein-Jones syndroom van posterieure fusie van lumbosacrale wervels en blefaroptose
	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
	Faulk Epstein Jones syndrome
	Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter.

Id	724064004
Status	Primitive

Associated morphology	Abnormally fused structure
Finding site	botstructuur van wervel van lumbosacrale overgang
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	neerwaartse verplaatsing
Finding site	structuur van palpebra superior
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

2064

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