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\Intelligenzminderung\X-linked intellectual disability Shrimpton type
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability Shrimpton type
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Shrimpton type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Shrimpton type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Shrimpton type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Shrimpton type
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability Shrimpton type
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability Shrimpton type

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
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
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
3314370017	This syndrome is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314371018	This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
3432711001000116	Intelligenzminderung, X-chromosomale, Typ Shrimpton	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
878101000172115	MRXS9 - mental retardation X-linked, syndromic 9	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973771000172114	déficience intellectuelle liée à l'X type Shrimpton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
878101000172115	MRXS9 - mental retardation X-linked, syndromic 9	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973771000172114	déficience intellectuelle liée à l'X type Shrimpton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432711001000116	Intelligenzminderung, X-chromosomale, Typ Shrimpton	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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