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syndroom van aangeboren afwezigheid van neus met choanenatresie en microftalmie (aandoening)
syndroom van aangeboren afwezigheid van neus met choanenatresie en microftalmie
syndroom van arinie met choanenatresie en microftalmie
arinie, choanale atresie, microftalmie en hypogonadotroop hypogonadisme
Bosma-syndroom
BAMS
Gifford-Bosma-syndroom
Ruprecht-Majewski-syndroom
Arrhinia with choanal atresia and microphthalmia syndrome
Arhinia, choanal atresia and microphthalmia
Bosma syndrome
Gifford Bosma syndrome
Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
Bosma arhinia microphthalmia syndrome
Ruprecht Majewski syndrome
BAMS - Bosma arhinia microphthalmia syndrome
A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
Id720511000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van neus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van choana
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend klein
Finding sitegehele bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map1135
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified