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osteocraniostenose (aandoening)
osteocraniostenose
Dit betekent dat de schedel en andere botten van je baby niet goed zijn gegroeid. Er zijn ook ernstige problemen met de hersenen en andere organen.
Osteocraniostenosis
Gracile bone dysplasia
Osteocraniosplenic syndrome
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Id722109008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2763
SNOMED CT to ICD-10 extended map
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified