centrale obesitas
hereditaire ontwikkelingsstoornis
polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
verstandelijke beperking
X-gebonden hereditaire aandoening
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Wilson-Turner-syndroom (aandoening)
Wilson-Turner-syndroom
WTS
syndroom van Wilson-Turner
Wilson Turner syndrome
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Id
719834005
Status
Primitive
Has interpretation
boven referentiebereik
Interprets
meetbare observatie betreffende lichaamsgewicht
Associated morphology
morfologische afwijking
Finding site
structuur van aangezicht
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Has interpretation
gestoord
Interprets
intellectueel vermogen
Has interpretation
gestoord
Interprets
Adaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Target
Q87.8
Term
Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map
3459
SNOMED CT to ICD-10 extended map
Target
Q87.8
Rule
TRUE
Advice
ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation
SNOMED CT source code to target map code correlation not specified