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771341006: 14q11.2 microduplication syndrome (disorder)

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

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

\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\14q11.2 microduplication syndrome
\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q11.2 microduplication syndrome
\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q11.2 microduplication syndrome

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

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705829018 14q11.2 microduplication syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3705830011 14q11.2 microduplication syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3705831010 Trisomy 14q11.2 en Synonym Active Initial character case insensitive 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 Active Case sensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q11.2 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
14q11.2 microduplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
14q11.2 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
14q11.2 microduplication syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
14q11.2 microduplication syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2
14q11.2 microduplication syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Some	2
14q11.2 microduplication syndrome	Is a	14q partial trisomy	true	Inferred relationship	Some
14q11.2 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
14q11.2 microduplication syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q11.2 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
14q11.2 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
14q11.2 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705829018	14q11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3705830011	14q11.2 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705831010	Trisomy 14q11.2	en	Synonym	Active	Initial character case insensitive	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	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core