718881004: Chromosome Xq27.3q28 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Developmental disorder\Developmental hereditary disorder\Chromosome Xq27.3q28 duplication syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Chromosome Xq27.3q28 duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314293013	Chromosome Xq27.3q28 duplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314294019	Chromosome Xq27.3q28 duplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401891013	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401892018	Xq27.3q28 duplication syndrome is a recently described syndrome characterised by short stature, hypogonadism, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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