723332005: Isodicentric chromosome 15 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Duplication/inversion 15q11
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Duplication/inversion 15q11
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Duplication/inversion 15q11
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Duplication/inversion 15q11
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Duplication/inversion 15q11
• \Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Duplication/inversion 15q11
• \Disease\Congenital disease\Congenital anomaly\Duplication/inversion 15q11
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Duplication/inversion 15q11
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Duplication/inversion 15q11
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Duplication/inversion 15q11
• \Disease\Developmental disorder\Congenital anomaly\Duplication/inversion 15q11

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424112014	Isodicentric chromosome 15 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424113016	Isodicentric chromosome 15 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424114010	Duplication/inversion 15q11	en	Synonym	Active	Case insensitive	SNOMED CT core
3424115011	Isodicentric 15 chromosome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424116012	Inverted duplication 15	en	Synonym	Active	Case insensitive	SNOMED CT core
3424117015	Non-distal tetrasomy 15q	en	Synonym	Active	Case insensitive	SNOMED CT core
3424118013	A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3424119017	A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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