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syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking (aandoening)
syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking
syndroom van gehoorgangatresie, aangeboren afwijkingen en verstandelijke handicap
syndroom van Cooper-Jabs
syndroom van gehoorgangatresie, congenitale misvormingen en mentale retardatie
Cooper Jabs syndrome
Aural atresia with multiple congenital anomalies and intellectual disability syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
Id720748007
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van meatus acusticus externus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1488
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified