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syndroom van distale trisomie 13q (aandoening)
syndroom van distale trisomie 13q
distale trisomie 13q
telomerische duplicatie 13q
distale trisomie van lange arm van chromosoom 13
Distal trisomy 13q
Telomeric duplication 13q
Distal duplication 13q
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (including microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
Id764454003
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 13
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map96105
SNOMED CT to ICD-10 extended map
TargetQ91.7
RuleTRUE
AdviceALWAYS Q91.7 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified