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syndroom van hypertelorisme, pre-auriculaire sinus, punctale fistels en doofheid (aandoening)
syndroom van hypertelorisme, pre-auriculaire sinus, punctale fistels en doofheid
syndroom van hypertelorisme, pre-auriculaire fistel, punctale fistels en doofheid
HPPD
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome
HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome
Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome
A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
Id773667003
StatusPrimitive
Finding sitestructuur van oor
Occurrencecongenitaal
Interpretsgehoorfunctie
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 map293958
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