| 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
| | Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to 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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