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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, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like 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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.1
TermTrisomie van geheel chromosoom, mosaïcisme (mitotische non-disjunctie)
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