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Xp21-deletiesyndroom (aandoening)
Xp21-deletiesyndroom
Xp21DS
complexe glycerolkinase-deficientie
Xp21 deletion syndrome
Xp21 contiguous gene deletion syndrome
Complex GKD (complex glycerol kinase deficiency)
Xp21 microdeletion syndrome
Complex glycerol kinase deficiency
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Id1295529002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van bijnierschors
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Associated morphologydeletie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
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