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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 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.
Id774149004
StatusPrimitive
Clinical courseProgressive
Finding siteHead structure
Has interpretationBelow reference range
InterpretsHead circumference
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
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