syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen (aandoening) | | syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen | | syndroom van congenitaal cataract, mentale retardatie, atresie van anus en afwijking van urinewegen syndroom van Karandikar-Maria-Kamble syndroom van congenitaal cataract, verstandelijke handicap, atresie van anus en afwijking van urinewegen
| | Karandikar Maria Kamble syndrome | | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
| | Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
| Id | 715989002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q12.0 | Term | Congenitaal cataract |
Target | F79.9 | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
Target | Q42.3 | Term | Congenitale afwezigheid, atresie en stenose van anus zonder fistel |
Target | Q64.9 | Term | Congenitale misvorming van urinewegen, niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 1381 |
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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