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syndroom van hemifaciale microsomie met radiaal defect (aandoening)
syndroom van hemifaciale microsomie met radiaal defect
Moeschler-Clarren-syndroom
syndroom van Moeschler-Clarren
oculoauriculovertebraal spectrum met radiale defecten
Hemifacial microsomia with radial defect syndrome
Oculoauriculovertebral spectrum with radial defects
Moeschler Clarren syndrome
A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Id726722009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van bot van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ75.8
TermOverige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen
TargetQ74.0
TermOverige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel
SNOMED CT to Orphanet simple map2549
SNOMED CT to ICD-10 extended map
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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