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367591000119105: Hereditary nephropathy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3012627014 Hereditary nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881056012 Inherited renal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881057015 Hereditary disorder of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3012627014 Hereditary nephropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3012627014 Hereditary nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881056012 Inherited renal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881057015 Hereditary disorder of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5632901000241118 néphropathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5632901000241118 néphropathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


169 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary nephropathy (disorder) Is a Kidney disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephropathy (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephropathy (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Dent's disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fabry's disease Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary hyperoxaluria (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal phosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary diffuse crescentic glomerulonephritis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary tubulointerstitial disorder Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal iminoglycinuria Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis with glucoaminophosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypokalemic alkalosis, Gullner type (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile nephropathic cystinosis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipoprotein glomerulopathy (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephritis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal carnitine transport defect Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephroblastoma (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubular dysgenesis (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Enamel-renal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with renal defect Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal dysplasia with limb defect syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bartter syndrome type 4a (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal mandibular syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricemia, anemia, renal failure syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Perlman syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glomerulopathy with fibronectin deposits 2 (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Faciocardiorenal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thymic, renal, anal, lung dysplasia syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schimke immuno-osseous dysplasia Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infundibulopelvic stenosis multicystic kidney syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial kidney disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thyrocerebrorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal coloboma syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant tubulointerstitial disease Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal hepatic pancreatic dysplasia (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal cell carcinoma (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary primary clear cell renal cell carcinoma (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Radio-renal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
LAMB2-related infantile-onset nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Drash syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Galloway Mowat syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephrocystin 3-related Meckel-like syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cystinuria, type 1 Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Karyomegalic interstitial nephritis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leigh-Syndrom mit nephrotischem Syndrom Is a False Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Holzgreve syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thin basement membrane disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polycystic kidney disease, infantile type Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited magnesium-losing nephropathy Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary focal and segmental glomerular lesions (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary minor glomerular abnormality Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oligohydramnios sequence Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive hereditary glomerulonephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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