X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) | | X-linked intellectual disability with acromegaly and hyperactivity syndrome | | This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. | | X-gebonden syndroom van verstandelijke beperking, acromegalie en hyperactiviteit | | X-gebonden syndroom van mentale retardatie, acromegalie en hyperactiviteit X-gebonden syndroom van verstandelijke handicap, acromegalie en hyperactiviteit
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| Id | 719826004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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 |
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