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1186710001: Leukoencephalopathy with calcifications and cysts (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667388019 Leucoencephalopathy with calcifications and cysts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667389010 Leukoencephalopathy with calcifications and cysts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667390018 Leukoencephalopathy with calcifications and cysts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667391019 Labrune syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399506018 A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399507010 A rare genetic cerebral small vessel disease characterised by leucoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667388019 Leucoencephalopathy with calcifications and cysts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667389010 Leukoencephalopathy with calcifications and cysts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667390018 Leukoencephalopathy with calcifications and cysts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667391019 Labrune syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667392014 A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable but restricted to the central nervous system and include among others slowing of cognitive performance, seizures and movement disorder with a combination of pyramidal, extrapyramidal and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667393016 A rare genetic cerebral small vessel disease characterised by leucoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable but restricted to the central nervous system and include among others slowing of cognitive performance, seizures and movement disorder with a combination of pyramidal, extrapyramidal and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399506018 A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399507010 A rare genetic cerebral small vessel disease characterised by leucoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433911001000113 Leukoenzephalopathie mit Kalzifikationen und Zysten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348281000241111 syndrome de Labrune fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348291000241113 leucoencéphalopathie avec calcifications et kystes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348281000241111 syndrome de Labrune fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348291000241113 leucoencéphalopathie avec calcifications et kystes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433911001000113 Leukoenzephalopathie mit Kalzifikationen und Zysten 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
Leukoencephalopathy with calcifications and cysts (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Cerebral calcification true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Cerebral cyst true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Small vessel cerebrovascular disease true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with calcifications and cysts (disorder) Finding site Cerebrovascular system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy with calcifications and cysts (disorder) Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Leukoencephalopathy with calcifications and cysts (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) 1
Leukoencephalopathy with calcifications and cysts (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukoencephalopathy with calcifications and cysts (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
Leukoencephalopathy with calcifications and cysts (disorder) Associated morphology Cyst (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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