| syndroom van ernstige verstandelijke beperking, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn (aandoening) | | syndroom van ernstige verstandelijke beperking, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn | | IQSEC2-gerelateerde syndromale mentale retardatie
syndroom van ernstige verstandelijke handicap, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn
| | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome | | IQSEC2-related syndromic intellectual disability
IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability
| | A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. |
| | Id | 774149004 | | Status | Primitive |
| 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 |
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| SNOMED CT to Orphanet simple map | 397933 |
| 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 |
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