Anomaly of chromosome pair 15	Autism spectrum disorder	Congenital malformation	Intellectual disability
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Isodicentric chromosome 15 syndrome (disorder)
	Isodicentric chromosome 15 syndrome
	Non-distal tetrasomy 15q Duplication/inversion 15q11 Isodicentric 15 chromosome Inverted duplication 15
	A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.

Id	723332005
Status	Primitive

Associated morphology	Tetrasomy
Finding site	Chromosome pair 15
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q99.8
Term	Overige gespecificeerde chromosoomafwijkingen

SNOMED CT to ICD-10 extended map

Target	Q99.8
Rule	TRUE
Advice	ALWAYS Q99.8
Correlation	SNOMED CT source code to target map code correlation not specified