771337007: 1q21.1 microduplication syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q21.1 microduplication syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q21.1 microduplication syndrome (disorder)

Status: current. Date: 30-Jan 2019

Descriptions:

Id Description Lang Type Status Case? Module

3705811011 1q21.1 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705812016 Trisomy 1q21.1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705813014 1q21.1 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705814015 A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405097016 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405098014 1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterised by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1q21.1 microduplication syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	2
1q21.1 microduplication syndrome (disorder)	Finding site	Chromosome pair 1	true	SNOMED RT Concept	SNOMED RT Concept	2
1q21.1 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	true	SNOMED RT Concept	SNOMED RT Concept	1
1q21.1 microduplication syndrome (disorder)	Is a	Partial trisomy of long arm of chromosome 1 (disorder)	true	SNOMED RT Concept	SNOMED RT Concept
1q21.1 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	SNOMED RT Concept	SNOMED RT Concept	2
1q21.1 microduplication syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	1
1q21.1 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	SNOMED RT Concept	SNOMED RT Concept	1
1q21.1 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	1
1q21.1 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	2
1q21.1 microduplication syndrome (disorder)	Is a	Multiple system malformation syndrome	true	SNOMED RT Concept	SNOMED RT Concept

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
3705811011	1q21.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705812016	Trisomy 1q21.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705813014	1q21.1 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705814015	A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405097016	1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405098014	1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterised by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core