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syndroom van ringchromosoom 13 (aandoening)
syndroom van ringchromosoom 13
ringchromosoom 13-syndroom
Ring chromosome 13 syndrome
Ring chromosome 13
A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
Id726723004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 13
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96176
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified