719810000: X-gebonden syndroom van verstandelijke beperking, epileptische aanvallen en psoriasis (aandoening)

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 (disorder)\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\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 (disorder)\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 (disorder)\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\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\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\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\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\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome (disorder)
\Disease\Developmental 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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Familial psoriasis (disorder)	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Pathological process (attribute)	Hypersensitivity process (qualifier value)	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Some	1
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	4
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6959311000146111	syndroom van Tranebjaerg-Svejgaard	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7797291000146116	X-gebonden syndroom van verstandelijke handicap, convulsies en psoriasis	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12273351000146112	X-gebonden syndroom van verstandelijke beperking, epileptische aanvallen en psoriasis (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12273681000146113	X-gebonden syndroom van mentale retardatie, insulten en psoriasis	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12273691000146110	X-gebonden syndroom van verstandelijke beperking, epileptische aanvallen en psoriasis	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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