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771447009: Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder)


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
3706239014 Laminin subunit beta 2 related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706240011 LAMB2-related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706241010 LAMB2 (laminin subunit beta 2) related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706242015 Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706239014 Laminin subunit beta 2 related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706240011 LAMB2-related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706241010 LAMB2 (laminin subunit beta 2) related infantile-onset nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706242015 Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706243013 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706244019 A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
6367351000241118 syndrome néphrotique débutant dans la petite enfance causé par la sous-unité bêta 2 de la laminine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6367361000241115 syndrome néphrotique débutant chez le bébé de moins d'un an causé par la subunité bêta 2 de la laminine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6367351000241118 syndrome néphrotique débutant dans la petite enfance causé par la sous-unité bêta 2 de la laminine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6367361000241115 syndrome néphrotique débutant chez le bébé de moins d'un an causé par la subunité bêta 2 de la laminine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
LAMB2-related infantile-onset nephrotic syndrome Is a Steroid-resistant nephrotic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
LAMB2-related infantile-onset nephrotic syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
LAMB2-related infantile-onset nephrotic syndrome Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
LAMB2-related infantile-onset nephrotic syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
LAMB2-related infantile-onset nephrotic syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
LAMB2-related infantile-onset nephrotic syndrome Interprets Albumin measurement (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
LAMB2-related infantile-onset nephrotic syndrome Interprets Measurement of protein in urine (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
LAMB2-related infantile-onset nephrotic syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
LAMB2-related infantile-onset nephrotic syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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