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syndroom van hypogonadisme met mitralisklepprolaps en verstandelijke beperking (aandoening)
syndroom van hypogonadisme met mitralisklepprolaps en verstandelijke beperking
Cantalamessa-Baldini-Ambrosi-syndroom
syndroom van hypogenitalisme, mitralisklepprolaps en verstandelijke beperking
syndroom van Cantalamessa-Baldini-Ambrosi
Hypogonadism with mitral valve prolapse and intellectual disability syndrome
Cantalamessa Baldini Ambrosi syndrome
Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal.
Id721841001
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2233
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified