726018006: Autosomal dominant tubulointerstitial kidney disease (disorder)

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

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

997661000172111 MKMAD - maladie des kystes médullaires rénaux autosomique dominante fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

6085011000172118 néphropathie tubulo-interstitielle autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

951041000172115 ADTKD - autosomal dominant tubulointerstitial kidney disease nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

960641000172113 autosomaal dominante tubulo-interstitiële nierziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant tubulointerstitial kidney disease	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant tubulointerstitial kidney disease	Is a	Medullary cystic disease of the kidney	true	Inferred relationship	Some
Autosomal dominant tubulointerstitial kidney disease	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Autosomal dominant tubulointerstitial kidney disease	Associated morphology	Fibrocystic change	true	Inferred relationship	Some	1
Autosomal dominant tubulointerstitial kidney disease	Finding site	Structure of medulla of kidney	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
UMOD-related autosomal dominant tubulointerstitial kidney disease	Is a	True	Autosomal dominant tubulointerstitial kidney disease	Inferred relationship	Some
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder)	Is a	True	Autosomal dominant tubulointerstitial kidney disease	Inferred relationship	Some

Reference Sets

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
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
997661000172111	MKMAD - maladie des kystes médullaires rénaux autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
6085011000172118	néphropathie tubulo-interstitielle autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
951041000172115	ADTKD - autosomal dominant tubulointerstitial kidney disease	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
960641000172113	autosomaal dominante tubulo-interstitiële nierziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)