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syndroom van frontonasale dysplasie, ernstige microftalmie en ernstige aangezichtsspleet (aandoening)
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
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
ALX1 (aristaless-like homeobox 1) 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.
Id773628009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified