| 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
| | Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. |
| | 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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