| syndroom van faciale dysmorfie, lensdislocatie, anomalieën van voorste segment en spontane filterblaas (aandoening) | | syndroom van faciale dysmorfie, lensdislocatie, anomalieën van voorste segment en spontane filterblaas | | syndroom van faciale dysmorfie, lensdislocatie, anomalieën van voorste segment en spontane filtratieblaas
syndroom van Traboulsi
FDLAB-syndroom
syndroom van faciale dysmorfie, lensdislocatie, anomalieën van voorste segment en spontane 'filtering bleb'
| | Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome | | Traboulsi syndrome
FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome
Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome
| | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. |
| | Id | 770728003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
|
| SNOMED CT to Orphanet simple map | 412022 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
