723332005: isodicentrisch chromosoom 15 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Isodicentric chromosome 15 syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Isodicentric chromosome 15 syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Isodicentric chromosome 15 syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Isodicentric chromosome 15 syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Isodicentric chromosome 15 syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Isodicentric chromosome 15 syndrome (disorder)

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

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

6911451000146112 isodicentrisch chromosoom 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911461000146110 isodicentrisch chromosoom 15 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911471000146116 IDIC-15 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911481000146119 partiële tetrasomie 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911491000146117 inverted duplication 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911501000146110 'supernumerary marker 15'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911511000146112 SMC15 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911521000146119 niet-distale tetrasomie 15q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

10782171000146117 Zeldzame chromosoomafwijking waarbij iemand in iedere lichaamscel een extra stukje genetisch materiaal heeft dat is ontstaan uit chromosoom 15; dit kan leiden tot onder meer een lichamelijke en/of verstandelijke beperking, afwijkingen aan het gezicht en een lage spierspanning. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isodicentric chromosome 15 syndrome (disorder)	Is a	Anomaly of chromosome pair 15	true	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	Is a	Pervasive developmental disorder (disorder)	true	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Finding site	Chromosome pair 15	true	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Isodicentric chromosome 15 syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Isodicentric chromosome 15 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Associated morphology	Tetrasomy	true	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Isodicentric chromosome 15 syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Isodicentric chromosome 15 syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Isodicentric chromosome 15 syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
6911451000146112	isodicentrisch chromosoom 15	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911461000146110	isodicentrisch chromosoom 15 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911471000146116	IDIC-15	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911481000146119	partiële tetrasomie 15	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911491000146117	inverted duplication 15	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911501000146110	'supernumerary marker 15'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911511000146112	SMC15	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911521000146119	niet-distale tetrasomie 15q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10782171000146117	Zeldzame chromosoomafwijking waarbij iemand in iedere lichaamscel een extra stukje genetisch materiaal heeft dat is ontstaan uit chromosoom 15; dit kan leiden tot onder meer een lichamelijke en/of verstandelijke beperking, afwijkingen aan het gezicht en een lage spierspanning.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)