autosomaal recessieve ichtyose	brachydactylie	dwerggroei	hereditaire aandoening van visueel systeem	microsferofakie	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie (aandoening)
	syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie
	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
	15q26.3 microdeletion syndrome
	A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.

Id	783551005
Status	Primitive

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	hyperkeratose
Finding site	gehele huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	afwijkend klein
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	abnormaal korte groei
Finding site	structuur van digitus van hand of voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	congenitale afwijkende ronding
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to Orphanet simple map

363992

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified