autosomaal dominante hereditaire aandoening	congenitaal strabismus	congenitale ectopische pupil	congenitale ptosis van ooglid	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis
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syndroom van blefaroptose, strabismus en ectopische pupil (aandoening)
	syndroom van blefaroptose, strabismus en ectopische pupil
	syndroom van ptosis, strabismus en corectopie
	Ptosis, strabismus, ectopic pupil syndrome
	McPherson Hall syndrome
	Syndrome with the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

Id	726619004
Status	Primitive

Associated morphology	congenitale ectopie
Finding site	structuur van pupil
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	Q10.0
Term	Congenitale ptosis

Target	H50.9
Term	Strabismus, niet gespecificeerd

Target	Q13.2
Term	Overige congenitale misvormingen van iris

SNOMED CT to Orphanet simple map

2999

SNOMED CT to ICD-10 extended map

Target	Q10.0
Rule	TRUE
Advice	ALWAYS Q10.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H50.9
Rule	TRUE
Advice	ALWAYS H50.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q13.2
Rule	TRUE
Advice	ALWAYS Q13.2
Correlation	SNOMED CT source code to target map code correlation not specified