718908009: X-linked intellectual disability Siderius type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Siderius type
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Siderius type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Siderius type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Siderius type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Siderius type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Siderius type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Siderius type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Siderius type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability Siderius type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314376011	X-linked intellectual disability Siderius type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314377019	X-linked intellectual disability Siderius type	en	Synonym	Active	Case sensitive	SNOMED CT core
3314378012	This syndrome is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.	en	Definition	Active	Case sensitive	SNOMED CT core
3314379016	This syndrome is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome.	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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