733625003: 48,XYYY syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...
• \Sex chromosome aneuploidy\48,XYYY syndrome
• \Sex chromosome abnormality - male phenotype\48,XYYY syndrome
• \Anomaly of chromosome Y\48,XYYY syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\48,XYYY syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome aneuploidy\48,XYYY syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - male phenotype\48,XYYY syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\48,XYYY syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\48,XYYY syndrome

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3472820010	48,XYYY syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3472821014	A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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