| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | | 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. | | syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige aangezichtsspleet | | ALX1-gerelateerde frontonasale dysplasie
frontonasale dysplasie type 3
syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige schisis van aangezicht
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| | Id | 773628009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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 |
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