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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
7777811000172111 néphropathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7777821000172118 pathologie rénale héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7777831000172115 néphropathie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4934951000172113 hereditaire nefropathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


165 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 Some
Hereditary nephropathy (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Some
Hereditary nephropathy (disorder) Finding site Kidney structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Dent's disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Fabry's disease Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Primary hyperoxaluria Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal phosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary diffuse crescentic glomerulonephritis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Melnick-Fraser syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Dysmorphic sialidosis with renal involvement Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial renal iminoglycinuria Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Infantile nephropathic cystinosis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Lipoprotein glomerulopathy (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary nephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal carnitine transport defect Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Nephroblastoma Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal tubular dysgenesis (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Enamel-renal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary papillary renal cell carcinoma (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Joubert syndrome with renal defect (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Genetic steroid-resistant nephrotic syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Bartter syndrome type 4a (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Acrorenal mandibular syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Acrorenal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hyperuricemia, anemia, renal failure syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Joubert syndrome with oculorenal defect (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Perlman syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Neurofaciodigitorenal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant tubulointerstitial kidney disease Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal coloboma syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant tubulointerstitial disease Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Renal hepatic pancreatic dysplasia (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial renal cell carcinoma (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary primary clear cell renal cell carcinoma (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant polycystic kidney disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Radio-renal syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
LAMB2-related infantile-onset nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Drash syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Pierson syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Galloway Mowat syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome due to congenital infection (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Cystinuria, type 1 Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Karyomegalic interstitial nephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
syndrome de Leigh avec syndrome néphrotique Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Holzgreve syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Thin basement membrane disease Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Inherited magnesium-losing nephropathy Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary focal and segmental glomerular lesions Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary minor glomerular abnormality (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Oligohydramnios sequence Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Non-progressive hereditary glomerulonephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Lowe syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some

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