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syndroom van ablefaron en macrostomie (aandoening)
syndroom van ablefaron en macrostomie
AMS
ablefaron-macrostomiesyndroom
Ablepharon macrostomia syndrome
An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.
Id718575002
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van regio oralis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
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