| syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie (aandoening) | | syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie | | syndroom van FBLN1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie
| | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
| | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
| | Id | 774070008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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 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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