764518004: Distal trisomy 2p (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)\Distal trisomy 2p (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3650177013 Distal trisomy 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650178015 Distal duplication 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650179011 Distal trisomy 2p (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650180014 Telomeric duplication 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5404316010 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404317018 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterised by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalised hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3650177013 Distal trisomy 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650178015 Distal duplication 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650179011 Distal trisomy 2p (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650180014 Telomeric duplication 2p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3649907012 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 2 with a highly variable phenotype. Principle characteristics are pre and post-natal growth failure, global developmental delay, facial dysmorphism (high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (ventricular, atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404316010 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404317018 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterised by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalised hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3382231001000115 Trisomie 2p, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

947461000172117 duplication distale 2p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

990961000172118 trisomie distale 2p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

947461000172117 duplication distale 2p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

990961000172118 trisomie distale 2p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3382231001000115 Trisomie 2p, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 2p (disorder)	Is a	2p partial trisomy syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 2p (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 2p (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 2p (disorder)	Finding site	Chromosome pair 2 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3650177013	Distal trisomy 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650178015	Distal duplication 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650179011	Distal trisomy 2p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650180014	Telomeric duplication 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404316010	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404317018	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterised by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalised hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3650177013	Distal trisomy 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650178015	Distal duplication 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650179011	Distal trisomy 2p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650180014	Telomeric duplication 2p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649907012	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 2 with a highly variable phenotype. Principle characteristics are pre and post-natal growth failure, global developmental delay, facial dysmorphism (high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (ventricular, atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404316010	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404317018	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterised by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalised hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3382231001000115	Trisomie 2p, distale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947461000172117	duplication distale 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990961000172118	trisomie distale 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947461000172117	duplication distale 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990961000172118	trisomie distale 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382231001000115	Trisomie 2p, distale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module