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Xq12-q13.3-duplicatiesyndroom (aandoening)
Xq12-q13.3-duplicatiesyndroom
Xq12-q13.3 duplication syndrome
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Id764711007
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map314389
SNOMED CT to ICD-10 extended map
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