| X-gebonden verstandelijke beperking Hedera-type (aandoening) | | X-gebonden verstandelijke beperking Hedera-type | | X-gebonden mentale retardatie Hedera-type
X-gebonden verstandelijke handicap Hedera-type
| | X-linked intellectual disability Hedera type | | A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. |
| | Id | 726727003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 93952 |
| SNOMED CT to ICD-10 extended map | | Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | 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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