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syndroom van gewrichtscontracturen, pterygium colli, micrognathie en hypoplastische tepels (aandoening)
syndroom van gewrichtscontracturen, pterygium colli, micrognathie en hypoplastische tepels
syndroom van Dinno
syndroom van gewrichtscontracturen, 'webbed neck', micrognathie en tepelhypoplasie
Dinno-syndroom
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome
Dinno syndrome
Contractures, webbed neck, micrognathia, hypoplastic nipples syndrome
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.
Id773626008
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van tepel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale webbing
Finding sitestructuur van huid van hals
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van regio van elleboog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologycontractuur
Finding sitestructuur van knieregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map314002
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