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774207004: syndrome d'insuffisance hépatique aigüe infantile-manifestations multisystémiques (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3728351013 Acute infantile liver failure with multisystemic involvement syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728352018 Acute infantile liver failure with multisystemic involvement syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
772391000241119 syndrome d'insuffisance hépatique aigüe infantile-manifestations multisystémiques (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
881191000172111 syndrome d'insuffisance hépatique aigüe infantile-manifestations multisystémiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3728353011 A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728354017 A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32. 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
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) affection aiguë de l'appareil digestif true Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome localisation d'une constatation (attribut) Structure of parenchyma of liver true Inferred relationship Some 1
Acute infantile liver failure with multisystemic involvement syndrome évolution clinique (attribut) Sudden onset AND/OR short duration (qualifier value) true Inferred relationship Some 2
Acute infantile liver failure with multisystemic involvement syndrome survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 1
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) Acute hepatic failure true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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