718905007: X-linked intellectual disability Shrimpton type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease (disorder)\X-linked recessive hereditary disease\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
• \Disease\Developmental disorder\Developmental hereditary disorder\An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5401899010	An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401900017	An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313636016	X-linked intellectual disability Shrimpton type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314368014	X-linked intellectual disability Shrimpton type (disorder)	en	Fully specified name	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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