722386009: Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Propensity to adverse reaction\Intolerance to substance\Intolerance to food (finding)\Gluten intolerance\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Propensity to adverse reaction\Propensity to adverse reactions to food\Intolerance to food (finding)\Gluten intolerance\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Neurological lesion\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)

\Disease\Disorder of immune function (disorder)\Autoimmune disease\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification 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\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Malabsorption syndrome\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of intestine\Celiac disease (disorder)\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Celiac disease with epilepsy and cerebral calcification syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Celiac disease with epilepsy and cerebral calcification 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

3331798014 Celiac disease with epilepsy and cerebral calcification syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331799018 Celiac disease with epilepsy and cerebral calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331800019 Coeliac disease with epilepsy and cerebral calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331801015 A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331802010 A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Is a	Cerebral calcification	true	Inferred relationship	Some
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Is a	Autoimmune disease	true	Inferred relationship	Some
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Is a	Celiac disease (disorder)	true	Inferred relationship	Some
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	4
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	4
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Causative agent	Gluten	true	Inferred relationship	Some	5
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Finding site	Intestinal structure	true	Inferred relationship	Some	5
Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	5

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
3331798014	Celiac disease with epilepsy and cerebral calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331799018	Celiac disease with epilepsy and cerebral calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331800019	Coeliac disease with epilepsy and cerebral calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331801015	A rare disorder characterized by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Celiac disease and epilepsy manifest at a variable age. Celiac disease can present in a typical form with onset in the first 2 years of life. Celiac disease may also present in silent or latent forms, which are characterized in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of celiac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331802010	A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core