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marfanoïde craniosynostosesyndroom (aandoening)
marfanoïde craniosynostosesyndroom
syndroom van Shprintzen-Goldberg
Shprintzen Goldberg craniosynostosis syndrome
Marfanoid craniosynostosis syndrome
Shprintzen-Goldberg syndrome
An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients.
Id719069008
StatusPrimitive
Interpretslichaamsbouw
DHD Diagnosethesaurus-referentieset
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