| syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking (aandoening) | | syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking | | syndroom van brachycefalie, doofheid, cataract en mentale retardatie
syndroom van Fine-Lubinsky
syndroom van brachycefalie, doofheid, cataract en verstandelijke handicap
syndroom van Aymé-Gripp
| | Fine Lubinsky syndrome | | Brachycephaly, deafness, cataract, intellectual disability syndrome
| | Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. |
| | Id | 720955004 | | 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 | 1272 |
| 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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