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783157004: Leigh syndrome with nephrotic syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3757873011 Infantile subacute necrotizing encephalopathy with nephrotic syndrome en Synonym Active Case insensitive SNOMED CT core
3757874017 Leigh disease with nephrotic syndrome en Synonym Active Case sensitive SNOMED CT core
3757875016 Infantile subacute necrotising encephalopathy with nephrotic syndrome en Synonym Active Case insensitive SNOMED CT core
3757876015 Leigh syndrome with nephrotic syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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