719810000: X-linked intellectual disability with seizure and psoriasis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Hypersensitivity condition\Immune hypersensitivity disorder by mechanism (disorder)\Cell-mediated cytotoxic disorder (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with seizure and psoriasis 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 with seizure and psoriasis syndrome (disorder)
• \Disease\Immune hypersensitivity disorder by mechanism (disorder)\Cell-mediated cytotoxic disorder (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Psoriasis\Familial psoriasis (disorder)\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability with seizure and psoriasis 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
3317989019	X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317990011	X-linked intellectual disability with seizure and psoriasis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317991010	Tranebjaerg Svejgaard syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402213018	A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402214012	A rare, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, psychomotor developmental delay, generalised seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317989019	X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317990011	X-linked intellectual disability with seizure and psoriasis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317991010	Tranebjaerg Svejgaard syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317992015	This syndrome has characteristics of intellectual deficit, seizures and psoriasis. It has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402213018	A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402214012	A rare, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, psychomotor developmental delay, generalised seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433631001000113	X-chromosomale Intelligenzminderung-Krämpfe-Psoriasis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962801000172111	syndrome de Tranebjaerg-Svejgaard	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009531000172117	syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962801000172111	syndrome de Tranebjaerg-Svejgaard	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009531000172117	syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433631001000113	X-chromosomale Intelligenzminderung-Krämpfe-Psoriasis-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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