FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

773649005: hypertriglycéridémie transitoire et stéatose hépatique du nourrisson (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
3725388012 Transient infantile hypertriglyceridemia and hepatosteatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725389016 Transient infantile hypertriglyceridemia and fatty liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725390013 Transient infantile hypertriglyceridemia and hepatosteatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725391012 Transient infantile hypertriglyceridaemia and hepatosteatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725392017 Transient infantile hypertriglyceridaemia and fatty liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
771791000241111 hypertriglycéridémie transitoire et stéatose hépatique du nourrisson (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
966201000172111 hypertriglycéridémie transitoire et stéatose hépatique du nourrisson fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3725393010 A rare genetic hepatic disease characterised by massive hepatomegaly, moderate to severe transient hypertriglyceridaemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalisation of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725394016 A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13. 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
Transient infantile hypertriglyceridemia and hepatosteatosis morphologie associée (attribut) Fatty degeneration true Inferred relationship Some 2
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis localisation d'une constatation (attribut) foie true Inferred relationship Some 2
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) affection aiguë de l'appareil digestif true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis interprète (attribut) Lipids measurement true Inferred relationship Some 1
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) stéatose hépatique true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 1
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) Familial hypertriglyceridaemia true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 2
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) trouble métabolique aigu true Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis évolution clinique (attribut) Transitory true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start