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syndroom van mozaïekvorm van trisomie 1 (aandoening)
syndroom van mozaïekvorm van trisomie 1
mozaïcisme van trisomie 1
mozaïektrisomie 1
mozaïektrisomie van chromosoom 1
Mosaic trisomy 1 syndrome
Trisomy 1 mosaicism
Mosaic trisomy chromosome 1
A rare autosomal trisomy with characteristics of reduced fetal movements and intrauterine growth retardation, low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (hypertelorism, cleft lip/palate, micrognathia, low hairline, and small low-set and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.
Id829974003
StatusDefined
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytrisomie
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map1692
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified