syndroom van partiële monosomie 9q
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syndroom van monosomie 9q22.3 (aandoening)
syndroom van monosomie 9q22.3
Monosomy 9q22.3 syndrome
9q22.3 deletion syndrome
Microdeletion 9q22.3
Monosomy 9q22.3
Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Id724098008
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 9
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map77301
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified