syndroom van gespleten neus met of zonder anorectale en renale anomalieën (aandoening) | | syndroom van gespleten neus met of zonder anorectale en renale anomalieën | | BNAR-syndroom
| | BNAR syndrome | | BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome Bifid nose, anorectal anomaly, renal anomaly syndrome
| | A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. |
| Id | 717940006 | 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 | 217266 |
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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