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marfanoïde craniosynostosesyndroom (aandoening)
marfanoïde craniosynostosesyndroom
syndroom van Shprintzen-Goldberg
Shprintzen Goldberg craniosynostosis syndrome
Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis 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
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2462
SNOMED CT to ICD-10 extended map
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