| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | | 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 disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. | | 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
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| | Id | 774149004 | | 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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