FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

236526008: Renal disorders in inherited disease (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    354545012 Renal disorders in inherited disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    625132016 Renal disorders in inherited disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2872821000005119 Renale forstyrrelser ved hereditær sygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Renale forstyrrelser ved hereditær sygdom Is a Kidney disease false Inferred relationship Some
    Renale forstyrrelser ved hereditær sygdom Finding site Kidney structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Enamel-renal syndrome Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Diffuse mesangial sclerosis with ocular abnormalities Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Pulmonic stenosis and congenital nephrosis Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Renal dysplasia and retinal aplasia Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Renal tubular acidosis with progressive nerve deafness Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Familiær lobulær glomerulopati Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Glomerulopathy with giant fibrillar deposits (disorder) Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Fabry's disease Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Melnick-Fraser syndrome Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Hereditary nephritis Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Hereditær nefropati, ikke klassificeret andetsteds Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    [EDTA] Hereditary nephropathy - otherwise specified associated with renal failure Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    [EDTA] Hereditary/familial nephropathy - type unspecified associated with renal failure Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    X-linked recessive nephrolithiasis with renal failure Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Isolated familial renal hypomagnesemia Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Familial hematuria (disorder) Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Non-progressive hereditary glomerulonephritis (disorder) Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Dent's disease (disorder) Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    Glomerulopathy with fibronectin deposits 2 (disorder) Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some
    A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. Is a False Renale forstyrrelser ved hereditær sygdom Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start