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1q41q42-microdeletiesyndroom (aandoening)
1q41q42-microdeletiesyndroom
1q41q42 microdeletion syndrome
Monosomy 1q41q42
1q41-q42 microdeletion syndrome
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Id716515000
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map250999
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified