764711007: Xq12-q13.3 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Xq12-q13.3 duplication syndrome
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Xq12-q13.3 duplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xq12-q13.3 duplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Xq12-q13.3 duplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xq12-q13.3 duplication syndrome
• \Developmental disorder\Developmental hereditary disorder\Xq12-q13.3 duplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Xq12-q13.3 duplication syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654884010	Xq12-q13.3 duplication syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3654885011	Xq12-q13.3 duplication syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3654890014	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterised by global developmental delay, autistic behaviour, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	en	Definition	Active	Case sensitive	SNOMED CT core
3654891013	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	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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