719825000: X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (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
3318057011	Johnson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318059014	X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318060016	X-linked intellectual disability, macrocephaly, macroorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402237018	An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402238011	An X-linked syndromic intellectual disability characterised by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318057011	Johnson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318059014	X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318060016	X-linked intellectual disability, macrocephaly, macroorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318058018	This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402237018	An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402238011	An X-linked syndromic intellectual disability characterised by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392301001000116	X-chromosomale Intelligenzminderung-Makrozephalie-Makroorchidie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971361000172117	syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017911000172110	syndrome de Johnson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971361000172117	syndrome de déficience intellectuelle liée à l'X-macrocéphalie-macroorchidie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017911000172110	syndrome de Johnson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392301001000116	X-chromosomale Intelligenzminderung-Makrozephalie-Makroorchidie-Syndrom	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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