719011002: X-linked intellectual disability Pai type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability Pai type
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability Pai type
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Pai type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Pai type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Pai type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Pai type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\X-linked intellectual disability Pai type
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability Pai type
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability Pai type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\X-linked intellectual disability Pai 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
3314661010	X-linked intellectual disability Pai type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314662015	X-linked intellectual disability Pai type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401915016	A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401916015	A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314661010	X-linked intellectual disability Pai type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314662015	X-linked intellectual disability Pai type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314663013	This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401915016	A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401916015	A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431501001000117	Intelligenzminderung, X-chromosomale, Typ Pai	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916871000172118	déficience intellectuelle liée à l'X type Pai	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916871000172118	déficience intellectuelle liée à l'X type Pai	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431501001000117	Intelligenzminderung, X-chromosomale, Typ Pai	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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