syndroom van faciale dysmorfie, conductief gehoorverlies en hartdefect (aandoening) | | syndroom van faciale dysmorfie, conductief gehoorverlies en hartdefect | | syndroom van dysmorfie, conductief gehoorverlies en hartdefect syndroom van faciale dysmorfie, geleidingsgehoorverlies en hartdefect
| | Facial dysmorphism, conductive hearing loss, heart defect syndrome | | Dysmorphism, conductive hearing loss, heart defect syndrome Tyshchenko syndrome
| | A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. |
| Id | 763279007 | 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 | 289553 |
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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