764512003: Distal trisomy 22q syndrome (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 22q syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)\Distal trisomy 22q syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 22q syndrome (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

3650173012 Distal duplication 22q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650175017 Distal trisomy 22q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650176016 Telomeric duplication 22q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4555273013 Distal trisomy 22q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555274019 Distal trisomy 22q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649906015 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype. Principle characteristics are varying degrees of intellectual disability and developmental delay, pre and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

883881000172115 trisomie distale 22q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

944161000172117 duplication distale 22q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

951991000172113 distale trisomie 22q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

991621000172113 distale duplicatie 22q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 22q syndrome (disorder)	Is a	22q partial trisomy (disorder)	true	Inferred relationship	Some
Distal trisomy 22q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 22q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 22q syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Distal trisomy 22q syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Distal trisomy 22q syndrome (disorder)	Finding site	Chromosome pair 22	true	Inferred relationship	Some	2

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
3650173012	Distal duplication 22q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650175017	Distal trisomy 22q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650176016	Telomeric duplication 22q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4555273013	Distal trisomy 22q syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555274019	Distal trisomy 22q syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649906015	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype. Principle characteristics are varying degrees of intellectual disability and developmental delay, pre and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
883881000172115	trisomie distale 22q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
944161000172117	duplication distale 22q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
951991000172113	distale trisomie 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
991621000172113	distale duplicatie 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)