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syndroom van mozaïekvorm van trisomie 22 (aandoening)
syndroom van mozaïekvorm van trisomie 22
mozaïektrisomie van chromosoom 22
mozaïektrisomie 22
mozaïcisme van trisomie 22
Mosaic trisomy 22 syndrome
Trisomy 22 mosaicism
Mosaic trisomy chromosome 22
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.
Id764625002
StatusDefined
Associated morphologytrisomie
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96068
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified