718910006: X-linked intellectual disability Stocco Dos Santos type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Stocco Dos Santos type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability Stocco Dos Santos type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314383016	X-linked intellectual disability Stocco Dos Santos type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314384010	X-linked intellectual disability Stocco Dos Santos type	en	Synonym	Active	Case sensitive	SNOMED CT core
3314385011	This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.	en	Definition	Active	Case sensitive	SNOMED CT core
3314386012	This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region.	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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