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. |
| Id | 773667003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 293958 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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