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1156768008: Ovarioleukodystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576146013 Ovarioleukodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4576147016 Ovarioleukodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4577015016 Ovarioleucodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6457251000241112 ovarioleucodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ovarioleukodystrophy Associated morphology Myelin sheath alteration true Inferred relationship Some 1
Ovarioleukodystrophy Is a A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes foamy aspect. true Inferred relationship Some
Ovarioleukodystrophy Interprets Hormone secretion true Inferred relationship Some 3
Ovarioleukodystrophy Has interpretation Decreased true Inferred relationship Some 3
Ovarioleukodystrophy Finding site Cerebral white matter structure true Inferred relationship Some 2
Ovarioleukodystrophy Finding site Ovarian endocrine structure true Inferred relationship Some 4
Ovarioleukodystrophy Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Ovarioleukodystrophy Is a Reproductive system hereditary disorder true Inferred relationship Some
Ovarioleukodystrophy Finding site Myelinated nerve fiber structure true Inferred relationship Some 1
Ovarioleukodystrophy Associated morphology Dystrophy true Inferred relationship Some 2
Ovarioleukodystrophy Is a Premature ovarian failure (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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