726018006: néphropathie tubulo-intersitielle autosomique dominante (trouble)

Descriptions:

Id Description Lang Type Status Case? Module

1008481000172110 néphropathie tubulo-intersitielle autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

761901000241110 néphropathie tubulo-intersitielle autosomique dominante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

997661000172111 MKMAD - maladie des kystes médullaires rénaux autosomique dominante fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
néphropathie tubulo-intersitielle autosomique dominante	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
néphropathie tubulo-intersitielle autosomique dominante	est un(e) (attribut)	Medullary cystic disease of the kidney	true	Inferred relationship	Some
néphropathie tubulo-intersitielle autosomique dominante	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
néphropathie tubulo-intersitielle autosomique dominante	morphologie associée (attribut)	Fibrocystic change	true	Inferred relationship	Some	1
néphropathie tubulo-intersitielle autosomique dominante	localisation d'une constatation (attribut)	Structure of medulla of kidney	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
néphropathie tubulo-interstitielle autosomique dominante associée à UMOD	est un(e) (attribut)	True	néphropathie tubulo-intersitielle autosomique dominante	Inferred relationship	Some
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder)	est un(e) (attribut)	True	néphropathie tubulo-intersitielle autosomique dominante	Inferred relationship	Some

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
1008481000172110	néphropathie tubulo-intersitielle autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
761901000241110	néphropathie tubulo-intersitielle autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
997661000172111	MKMAD - maladie des kystes médullaires rénaux autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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