| syndroom van blefarofimose, ptose, esotropie, syndactylie en kleine gestalte (aandoening) | | syndroom van blefarofimose, ptose, esotropie, syndactylie en kleine gestalte | | syndroom van blefarofimose, ptosis, esotropie, syndactylie en kleine gestalte
syndroom van Frydman-Cohen-Karmon
| | Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome | | Frydman Cohen Karmon syndrome
| | A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
| | Id | 717914000 | | 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 | 2057 |
| 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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