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

SNOMED CT Concept\Clinical finding\...

\Hypersensitivity condition\Immune hypersensitivity disorder by mechanism\Cell-mediated cytotoxic disorder\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\Finding of brain\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome

\Disorder of head\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\X-linked intellectual disability with seizure and psoriasis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\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
\Disease\Disorder of immune function\Immune hypersensitivity disorder by mechanism\Cell-mediated cytotoxic disorder\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Psoriasis\Familial psoriasis\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with seizure and psoriasis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with seizure and psoriasis syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3317990011 X-linked intellectual disability with seizure and psoriasis syndrome en Synonym Active Case sensitive SNOMED CT core

3317991010 Tranebjaerg Svejgaard syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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	Case sensitive	SNOMED CT core
3317990011	X-linked intellectual disability with seizure and psoriasis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3317991010	Tranebjaerg Svejgaard syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core