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X-gebonden palatoschisis en ankyloglossie (aandoening)
X-gebonden palatoschisis en ankyloglossie
X-gebonden palatum fissum en ankyloglossie
X-gebonden gehemeltespleet en te korte tongriem
X-linked cleft palate and ankyloglossia
A rare genetic developmental defect during embryogenesis syndrome with characteristics of the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (for example absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (for example buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
Id766761000
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ35.9
TermGespleten gehemelte, niet gespecificeerd
TargetQ38.1
TermAnkyloglossie
SNOMED CT to Orphanet simple map324601
SNOMED CT to ICD-10 extended map
TargetQ35.9
RuleTRUE
AdviceALWAYS Q35.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ38.1
RuleTRUE
AdviceALWAYS Q38.1
CorrelationSNOMED CT source code to target map code correlation not specified