782877002: Xp22.13p22.2 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Xp22.13p22.2 duplication syndrome
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Xp22.13p22.2 duplication syndrome
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xp22.13p22.2 duplication syndrome
• \Chromosomal disorder (disorder)\Duplication of chromosome\Xp22.13p22.2 duplication syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xp22.13p22.2 duplication syndrome
• \Developmental disorder\Developmental hereditary disorder\Xp22.13p22.2 duplication syndrome
• \Developmental disorder\Developmental delay\Xp22.13p22.2 duplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756515014	Xp22.13p22.2 duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756516010	Xp22.13p22.2 duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756517018	A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756518011	A rare syndromic intellectual disability characterised by developmental delay and intellectual disability, learning and behavioural problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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