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monosomie 22 (aandoening)
monosomie 22
monosomie van chromosoom 22
Monosomy 22 syndrome
Monosomy 22
Deletion 22
A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.
Id787411009
StatusPrimitive
Associated morphologymonosomie
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96123
SNOMED CT to ICD-10 extended map
TargetQ93.0
RuleTRUE
AdviceALWAYS Q93.0
CorrelationSNOMED CT source code to target map code correlation not specified