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783157004: Leigh syndrome with nephrotic syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757872018 Leigh syndrome with nephrotic syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757873011 Infantile subacute necrotizing encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757874017 Leigh disease with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757875016 Infantile subacute necrotising encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757876015 Leigh syndrome with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757877012 A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leigh syndrome with nephrotic syndrome (disorder) Interprets Measurement of protein in urine (procedure) true Inferred relationship Some 3
Leigh syndrome with nephrotic syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Some 1
Leigh syndrome with nephrotic syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Is a Leigh's disease true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Is a Mitochondrial encephalomyopathy (disorder) true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Finding site Brain structure true Inferred relationship Some 1
Leigh syndrome with nephrotic syndrome (disorder) Is a Nephrotic syndrome true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Leigh syndrome with nephrotic syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 3
Leigh syndrome with nephrotic syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) Interprets Albumin measurement true Inferred relationship Some 2
Leigh syndrome with nephrotic syndrome (disorder) Finding site Glomerulus structure true Inferred relationship Some 5
Leigh syndrome with nephrotic syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 4
Leigh syndrome with nephrotic syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Leigh syndrome with nephrotic syndrome (disorder) Is a Metabolic renal disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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