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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Renal disorders in inherited disease	Is a	Kidney disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal disorders in inherited disease	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Enamel-renal syndrome	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Diffuse mesangial sclerosis with ocular abnormalities	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Pulmonic stenosis and congenital nephrosis	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal dysplasia and retinal aplasia	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubular acidosis with progressive nerve deafness	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial lobular glomerulopathy	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Glomerulopathy with fibronectin deposits 1	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Fabry's disease	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nephritis	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nephropathy not elsewhere classified	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
[EDTA] Hereditary nephropathy - otherwise specified associated with renal failure	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
[EDTA] Hereditary/familial nephropathy - type unspecified associated with renal failure	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive nephrolithiasis with renal failure	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated familial renal hypomagnesaemia	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hematuria	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Non-progressive hereditary glomerulonephritis (disorder)	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Dent's disease (disorder)	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Glomerulopathy with fibronectin deposits 2 (disorder)	Is a	False	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Renal disorders in inherited disease	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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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
354545012	Renal disorders in inherited disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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