congenitale anomalie van Y-chromosoom
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isochromosomie Yq (aandoening)
isochromosomie Yq
Isochromosomy Yq
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.
Id770542008
StatusPrimitive
Associated morphologyafwijkende celstructuur
Finding sitestructuur van geslachtschromosoom Y
Occurrencecongenitaal
SNOMED CT to Orphanet simple map
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ98.6
TermMannelijk fenotype met structureel afwijkend geslachtschromosoom
SNOMED CT to ICD-10 extended map
TargetQ98.6
RuleTRUE
AdviceALWAYS Q98.6
CorrelationSNOMED CT source code to target map code correlation not specified