718900002: Syndromic X-linked intellectual disability type 11 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Syndromic X-linked intellectual disability type 11 (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Syndromic X-linked intellectual disability type 11 (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Syndromic X-linked intellectual disability type 11 (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Syndromic X-linked intellectual disability type 11 (disorder)

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
3314351010	Syndromic X-linked intellectual disability type 11 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314352015	Syndromic X-linked intellectual disability type 11	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314353013	X-linked intellectual disability Shashi type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401897012	X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401898019	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314351010	Syndromic X-linked intellectual disability type 11 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314352015	Syndromic X-linked intellectual disability type 11	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314353013	X-linked intellectual disability Shashi type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314354019	This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314355018	This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401897012	X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401898019	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430611001000110	Intelligenzminderung, X-chromosomale, Typ Shashi	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430611001000110	Intelligenzminderung, X-chromosomale, Typ Shashi	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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