771341006: 14q11.2 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\14q11.2 microduplication syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\14q11.2 microduplication syndrome (disorder)

Status: current. Date: 30-Jan 2019

Descriptions:

Id Description Lang Type Status Case? Module

3705829018 14q11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705830011 14q11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705831010 Trisomy 14q11.2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705832015 A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3705833013 A rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405104017 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405105016 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. 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
14q11.2 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	false	SNOMED RT Concept	SNOMED RT Concept	2
14q11.2 microduplication syndrome (disorder)	Is a	14q partial trisomy (disorder)	true	SNOMED RT Concept	SNOMED RT Concept
14q11.2 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	SNOMED RT Concept	SNOMED RT Concept	2
14q11.2 microduplication syndrome (disorder)	Finding site	Chromosome pair 14	false	SNOMED RT Concept	SNOMED RT Concept	1
14q11.2 microduplication syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	1
14q11.2 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	SNOMED RT Concept	SNOMED RT Concept	1
14q11.2 microduplication syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	2
14q11.2 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	1
14q11.2 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	true	SNOMED RT Concept	SNOMED RT Concept	1
14q11.2 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	2
14q11.2 microduplication syndrome (disorder)	Is a	Multiple system malformation syndrome	true	SNOMED RT Concept	SNOMED RT Concept
14q11.2 microduplication syndrome (disorder)	Finding site	Chromosome pair 14	true	SNOMED RT Concept	SNOMED RT Concept	2

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
3705829018	14q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705830011	14q11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705831010	Trisomy 14q11.2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3705832015	A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705833013	A rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405104017	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405105016	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core