771341006: syndrome de microduplication 14q11.2 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\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)
• \anomalie chromosomique\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)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\14q11.2 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q11.2 microduplication syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\14q11.2 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	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
770651000241118	syndrome de microduplication 14q11.2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
958021000172117	syndrome de microduplication 14q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
972081000172119	dup(14)(q11.2)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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