733625003: 48,XYYY syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\48,XYYY syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...
• \Sex chromosome aneuploidy (disorder)\48,XYYY syndrome (disorder)
• \Sex chromosome abnormality - male phenotype\48,XYYY syndrome (disorder)
• \Anomaly of chromosome Y\48,XYYY syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...
• \Sex chromosome aneuploidy (disorder)\48,XYYY syndrome (disorder)
• \Sex chromosome abnormality - male phenotype\48,XYYY syndrome (disorder)
• \Anomaly of chromosome Y\48,XYYY syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\48,XYYY syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3472819016	48,XYYY syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3472820010	48,XYYY syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403837019	A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403838012	A rare Y chromosome number anomaly that affects only males and is characterised by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	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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