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syndroom van ichtyose, orale en digitale anomalie├źn (aandoening)
syndroom van ichtyose, orale en digitale anomalie├źn
syndroom van Clayton Smith-Donnai
Ichthyosis, oral and digital anomalies syndrome
Clayton-Smith Donnai syndrome
This syndrome has characteristics of ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.
Id732950006
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ80.9
TermCongenitale ichthyose, niet gespecificeerd
TargetQ38.6
TermOverige congenitale misvormingen van mond
TargetQ74.0
TermOverige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel
SNOMED CT to Orphanet simple map2272
SNOMED CT to ICD-10 extended map
TargetQ80.9
RuleTRUE
AdviceALWAYS Q80.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ38.6
RuleTRUE
AdviceALWAYS Q38.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.0
RuleTRUE
AdviceALWAYS Q74.0
CorrelationSNOMED CT source code to target map code correlation not specified