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733082001: Early-onset Lafora body disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498694013 Early-onset Lafora body disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3498695014 Early-onset Lafora body disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403718017 A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403719013 A rare genetic progressive myoclonic epilepsy characterised by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498694013 Early-onset Lafora body disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3498695014 Early-onset Lafora body disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499961016 An extremely rare inherited form of progressive myoclonic epilepsy with characteristics of progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. There is evidence the disease is caused by homozygous mutation in the PRDM8 gene on chromosome 4q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403718017 A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403719013 A rare genetic progressive myoclonic epilepsy characterised by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429831001000111 Früh beginnende Lafora-Einschlusskörperchen-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925381000172110 maladie à corps de Lafora à début précoce fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925381000172110 maladie à corps de Lafora à début précoce fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429831001000111 Früh beginnende Lafora-Einschlusskörperchen-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early-onset Lafora body disease (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Associated morphology Lafora body true Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset Lafora body disease (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset Lafora body disease (disorder) 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 Existential restriction modifier (core metadata concept) 2
Early-onset Lafora body disease (disorder) Is a Childhood seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset Lafora body disease (disorder) Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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