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syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking (aandoening)
syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking
syndroom van Pfeiffer-Singer-Zschiesche
syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie
cardiocraniaalsyndroom Pfeiffer-type
Cardiocranial syndrome Pfeiffer type
Craniosynostosis with congenital heart disease and intellectual disability syndrome
Pfeiffer Singer Zschiesche syndrome
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.
Id720606005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified