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syndroom van 1p35.2-microdeletie (aandoening)
syndroom van 1p35.2-microdeletie
monosomie 1p35.2
microdeletie van chromosoom 1p35.2
1p35.2-microdeletiesyndroom
1p35.2 microdeletion syndrome
Monosomy 1p35.2
A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.
Id1228844002
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 1
Occurrencecongenitaal
SNOMED CT to Orphanet simple map456298
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified