1186721005: Infantile inflammatory bowel disease with neurological involvement (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Infantile inflammatory bowel disease with neurological involvement

\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement

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

\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement

\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile inflammatory bowel disease with neurological involvement
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Infantile inflammatory bowel disease with neurological involvement
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile inflammatory bowel disease with neurological involvement

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile inflammatory bowel disease with neurological involvement
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of immune function\Hereditary disorder of immune system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of immune function\Inflammatory bowel disease\Infantile inflammatory bowel disease with neurological involvement
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Disease\Inflammatory disorder\Inflammatory bowel disease\Infantile inflammatory bowel disease with neurological involvement
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Infantile inflammatory bowel disease with neurological involvement
\Disease\Systemic disease\Inflammatory bowel disease\Infantile inflammatory bowel disease with neurological involvement
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile inflammatory bowel disease with neurological involvement
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile inflammatory bowel disease with neurological involvement

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4667440018 Infantile inflammatory bowel disease with neurological involvement (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4667441019 Infantile inflammatory bowel disease with neurological involvement en Synonym Active Case insensitive SNOMED CT core

4667442014 A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported. en Definition Active Case sensitive SNOMED CT core

4667443016 A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile inflammatory bowel disease with neurological involvement	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Intellectual disability	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Inflammatory bowel disease	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Cerebral atrophy	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Infantile inflammatory bowel disease with neurological involvement	Occurrence	Infancy	true	Inferred relationship	Some	2
Infantile inflammatory bowel disease with neurological involvement	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	2
Infantile inflammatory bowel disease with neurological involvement	Pathological process	Dysregulated host response	true	Inferred relationship	Some	2
Infantile inflammatory bowel disease with neurological involvement	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Infantile inflammatory bowel disease with neurological involvement	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Infantile inflammatory bowel disease with neurological involvement	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Infantile inflammatory bowel disease with neurological involvement	Has interpretation	Impaired	true	Inferred relationship	Some	4
Infantile inflammatory bowel disease with neurological involvement	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Infantile inflammatory bowel disease with neurological involvement	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4667440018	Infantile inflammatory bowel disease with neurological involvement (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4667441019	Infantile inflammatory bowel disease with neurological involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
4667442014	A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
4667443016	A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core