||||||
autismespectrumstoornis door AUTS2-deficiƫntie (aandoening)
autismespectrumstoornis door AUTS2-deficiƫntie
AUTS2-syndroom
Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
AUTS2 syndrome
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11.
Id771512003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetF84.1
TermAtypisch autisme
SNOMED CT to Orphanet simple map352490
SNOMED CT to ICD-10 extended map
TargetF84.1
RuleTRUE
AdviceALWAYS F84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified