| 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
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. |
| | 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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