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722386009: 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
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 Inactive 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402909018 Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402910011 Coeliac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterised by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Is a Cerebral calcification true Inferred relationship Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Is a A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. true Inferred relationship Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Is a Autoimmune disease true Inferred relationship Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Is a Celiac disease (disorder) true Inferred relationship Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Has definitional manifestation Seizure false Inferred relationship Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Associated morphology Deposition of calcium in normally non calcified tissue true Inferred relationship Some 4
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Some 4
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Causative agent Gluten true Inferred relationship Some 5
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Finding site Intestinal structure true Inferred relationship Some 5
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Pathological process (attribute) Autoimmune process true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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