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726018006: Autosomal dominant tubulointerstitial kidney disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3447485011 Autosomal dominant medullary cystic kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636201018 Autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636202013 Autosomal dominant tubulointerstitial kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403514018 A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403515017 A rare, genetic renal tubular disease characterised by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447484010 Autosomal dominant medullary cystic kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447485011 Autosomal dominant medullary cystic kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636201018 Autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636202013 Autosomal dominant tubulointerstitial kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447486012 Autosomal dominant medullary cystic kidney disease is a chronic tubulointerstitial nephropathy, which belongs to a heterogeneous group of inherited tubulo-interstitial nephritis. Less than 60 families affected have been described. Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endonasal desmopressin. End-stage renal disease typically occurs in the third-fifth decade of life or even later. Two genes have been linked to the disease: MCKD1 (1q21) and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403514018 A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403515017 A rare, genetic renal tubular disease characterised by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389991001000115 Nierenkrankheit, tubulointerstitielle, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997661000172111 MKMAD - maladie des kystes médullaires rénaux autosomique dominante fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008481000172110 néphropathie tubulo-intersitielle autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997661000172111 MKMAD - maladie des kystes médullaires rénaux autosomique dominante fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008481000172110 néphropathie tubulo-intersitielle autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389991001000115 Nierenkrankheit, tubulointerstitielle, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant tubulointerstitial kidney disease (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial kidney disease (disorder) Is a Medullary cystic disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial kidney disease (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial kidney disease (disorder) Associated morphology Fibrocystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant tubulointerstitial kidney disease (disorder) Finding site Structure of medulla of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
UMOD-related autosomal dominant tubulointerstitial kidney disease Is a True Autosomal dominant tubulointerstitial kidney disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) Is a True Autosomal dominant tubulointerstitial kidney disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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