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frontorhinie (aandoening)
frontorhinie
syndroom van geïsoleerde mediane aangezichtsspleet
ALX-3-gerelateerde frontonasale dysplasie
frontonasale dysplasie type 1
Frontorhiny
Isolated median cleft face syndrome
ALX3-related frontonasal dysplasia
ALX homeobox 3-related frontonasal dysplasia
Frontonasal dysplasia type 1
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Id1230021007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map391474
SNOMED CT to ICD-10 extended map
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified