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isodicentrisch chromosoom 15 (aandoening)
isodicentrisch chromosoom 15
IDIC-15
partiƫle tetrasomie 15
inverted duplication 15
niet-distale tetrasomie 15q
SMC15
'supernumerary marker 15'-syndroom
IDIC-15
SMC15
Zeldzame chromosoomafwijking waarbij iemand in iedere lichaamscel een extra stukje genetisch materiaal heeft dat is ontstaan uit chromosoom 15; dit kan leiden tot onder meer een lichamelijke en/of verstandelijke beperking, afwijkingen aan het gezicht en een lage spierspanning.
Isodicentric chromosome 15 syndrome
Inverted duplication 15
Non-distal tetrasomy 15q
Duplication/inversion 15q11
Isodicentric 15 chromosome
A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.
Id723332005
StatusPrimitive
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 15
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified