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syndroom van verstandelijke beperking, grof aangezicht, macrocefalie en cerebellaire hypotrofie (aandoening)
syndroom van verstandelijke beperking, grof aangezicht, macrocefalie en cerebellaire hypotrofie
syndroom van mentale retardatie, grof aangezicht, macrocefalie en cerebellaire hypotrofie
autosomaal recessieve spinocerebellaire ataxie type 20
syndroom van verstandelijke handicap, grof aangezicht, macrocefalie en cerebellaire hypotrofie
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
SCAR20 - autosomal recessive spinocerebellar ataxia type 20
A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
Id782753000
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map397709
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