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717053007: Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308301017 Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308302012 Renal tubulopathy with encephalopathy and liver failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401479013 Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308301017 Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308301017 Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308302012 Renal tubulopathy with encephalopathy and liver failure syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308302012 Renal tubulopathy with encephalopathy and liver failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308303019 Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401479013 Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424741001000114 Renale Tubulopathie - Enzephalopathie - Leberversagen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424741001000114 Renale Tubulopathie - Enzephalopathie - Leberversagen 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
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Metabolic and genetic disorder affecting the liver true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Disorder of mitochondrial respiratory chain complexes (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Renal tubulopathy with encephalopathy and liver failure syndrome Finding site Liver structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Metabolic encephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Renal tubulopathy with encephalopathy and liver failure syndrome Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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