| syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige aangezichtsspleet (aandoening) | | syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige aangezichtsspleet | | frontonasale dysplasie type 3
syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige schisis van aangezicht
ALX1-gerelateerde frontonasale dysplasie
| | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome | | Frontonasal dysplasia type 3
ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia
ALX1-related frontonasal dysplasia
| | A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
| | Id | 773628009 | | 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 | 306542 |
| 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 |
|
|
