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syndroom van gonadale dysgenesie type XY met geassocieerde anomalieën (aandoening)
syndroom van gonadale dysgenesie type XY met geassocieerde anomalieën
gonadale dysgenesie type XY met geassocieerde anomalieën-syndroom
XY type gonadal dysgenesis with associated anomalies syndrome
Gonadal dysgenesis XY type with associated anomalies
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.
Id733605002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.1
Term46,XX echte hermafrodiet
SNOMED CT to Orphanet simple map1770
SNOMED CT to ICD-10 extended map
TargetQ99.1
RuleTRUE
AdviceALWAYS Q99.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified