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syndroom van ernstige achondroplasie, ontwikkelingsachterstand en acanthosis nigricans (aandoening)
syndroom van ernstige achondroplasie, ontwikkelingsachterstand en acanthosis nigricans
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome
Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
Id874931001
StatusPrimitive
Has interpretationafwijkend
Interpretskeratinisatie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map85165
SNOMED CT to ICD-10 extended map
TargetQ77.4
RuleTRUE
AdviceALWAYS Q77.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified