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783157004: Leigh syndrome with nephrotic syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. 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

4346391000052112 Leighs syndrom med nefrotiskt syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

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
4346391000052112	Leighs syndrom med nefrotiskt syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)