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syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning (aandoening)
syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning
syndroom van endotheeldystrofie, hypoplasie van iris, congenitaal cataract en keratoconus
familiaire keratoconus met cataract
EDICT syndrome
Familial keratoconus with cataract
Autosomal dominant keratoconus with early-onset anterior polar cataract
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome
EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome
A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25.
Id722439009
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ15.8
TermOverige gespecificeerde congenitale misvormingen van oog
SNOMED CT to Orphanet simple map293936
SNOMED CT to ICD-10 extended map
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified