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syndroom van microcefalie en faciocardioskeletale afwijkingen (aandoening)
syndroom van microcefalie en faciocardioskeletale afwijkingen
Hadziselimovic-syndroom
syndroom van Hadziselimovic
syndroom van microcefalie en faciocardioskeletale afwijkingen type Hadziselimovic
Hadziselimovic syndrome
Microcephaly faciocardioskeletal syndrome
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Id719395001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified