723332005: Isodicentric chromosome 15 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\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.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\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.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\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.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 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.
• \Disease\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 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.
• \Disease\Mental disorder\Developmental mental disorder (disorder)\Disorder of psychological development\Pervasive developmental disorder (disorder)\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.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Developmental mental disorder (disorder)\Disorder of psychological development\Pervasive developmental disorder (disorder)\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.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\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.
• \Disease\Developmental disorder\Congenital malformation\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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	Inactive	Entire term case sensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403003011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403004017	A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterised by early central hypotonia, global developmental delay and intellectual deficit, autistic behaviour, and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424112014	Isodicentric chromosome 15 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424113016	Isodicentric chromosome 15 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424114010	Duplication/inversion 15q11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424115011	Isodicentric 15 chromosome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424116012	Inverted duplication 15	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424117015	Non-distal tetrasomy 15q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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