|
monosomie 9p (aandoening)
monosomie 9p
monosomie van korte arm van chromosoom 9
Monosomy 9p
9p deletion syndrome
Alfi syndrome
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Id771072001
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Global Patient Set
SNOMED CT to Orphanet simple map
DHD Diagnosis thesaurus reference set
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom