autosomaal dominante hereditaire aandoening
congenitaal cataract
dwerggroei
hereditaire aandoening van visueel systeem
hereditaire ontwikkelingsstoornis
polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
||||||
syndroom van cataract, afwijkend oraal frenulum en groeiachterstand (aandoening)
syndroom van cataract, afwijkend oraal frenulum en groeiachterstand
syndroom van Wellesley-Carman-French
Wellesley Carman French syndrome
Cataract with aberrant oral frenula and growth delay syndrome
This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Id715988005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ12.0
TermCongenitaal cataract
TargetQ38.6
TermOverige congenitale misvormingen van mond
TargetE34.3
TermKleine gestalte, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1373
SNOMED CT to ICD-10 extended map
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ38.6
RuleTRUE
AdviceALWAYS Q38.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified