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367591000119105: Hereditary nephropathy (disorder)

Status: current, Defined. 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 Case insensitive SNOMED CT core
3012627014 Hereditary nephropathy en Synonym Active Case insensitive SNOMED CT core
3881056012 Inherited renal disease en Synonym Active Case insensitive SNOMED CT core
3881057015 Hereditary disorder of kidney en Synonym Active Case insensitive SNOMED CT core

160 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary nephropathy Is a Kidney disease true Inferred relationship Some
Hereditary nephropathy Is a Hereditary disorder of the urinary system true Inferred relationship Some
Hereditary nephropathy Finding site Kidney structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
LAMB2-related infantile-onset nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Some
Drash syndrome Is a True Hereditary nephropathy Inferred relationship Some
Pierson syndrome Is a True Hereditary nephropathy Inferred relationship Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis Is a True Hereditary nephropathy Inferred relationship Some
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Hereditary nephropathy Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Hereditary nephropathy Inferred relationship Some
Galloway Mowat syndrome Is a True Hereditary nephropathy Inferred relationship Some
Congenital nephrotic syndrome due to congenital infection Is a True Hereditary nephropathy Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Hereditary nephropathy Inferred relationship Some
Cystinuria, type 1 Is a True Hereditary nephropathy Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a True Hereditary nephropathy Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Hereditary nephropathy Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Hereditary nephropathy Inferred relationship Some
Karyomegalic interstitial nephritis Is a True Hereditary nephropathy Inferred relationship Some
Leigh syndrome with nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Some
Holzgreve syndrome Is a True Hereditary nephropathy Inferred relationship Some
Thin basement membrane disease Is a True Hereditary nephropathy Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Hereditary nephropathy Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Is a True Hereditary nephropathy Inferred relationship Some
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis Is a True Hereditary nephropathy Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary nephropathy Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Hereditary nephropathy Inferred relationship Some
Inherited magnesium-losing nephropathy Is a True Hereditary nephropathy Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary nephropathy Inferred relationship Some
Hereditary focal and segmental glomerular lesions Is a True Hereditary nephropathy Inferred relationship Some
Hereditary minor glomerular abnormality Is a True Hereditary nephropathy Inferred relationship Some
Oligohydramnios sequence Is a True Hereditary nephropathy Inferred relationship Some
Non-progressive hereditary glomerulonephritis Is a True Hereditary nephropathy Inferred relationship Some
Lowe syndrome Is a True Hereditary nephropathy Inferred relationship Some
Fibronectin glomerulopathy Is a True Hereditary nephropathy Inferred relationship Some
Diffuse mesangial sclerosis with ocular abnormalities Is a True Hereditary nephropathy Inferred relationship Some
Renal dysplasia and retinal aplasia Is a False Hereditary nephropathy Inferred relationship Some
Renal tubular acidosis with progressive nerve deafness Is a True Hereditary nephropathy Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary nephropathy Inferred relationship Some
Bartter syndrome Is a True Hereditary nephropathy Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Hereditary nephropathy Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Hereditary nephropathy Inferred relationship Some
MARCH syndrome Is a True Hereditary nephropathy Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Hereditary nephropathy Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Hereditary nephropathy Inferred relationship Some
Gitelman syndrome Is a True Hereditary nephropathy Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Hereditary nephropathy Inferred relationship Some
HELIX syndrome Is a True Hereditary nephropathy Inferred relationship Some
Nephronophthisis Is a True Hereditary nephropathy Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Hereditary nephropathy Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Hereditary nephropathy Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Hereditary nephropathy Inferred relationship Some
Dent's disease Is a True Hereditary nephropathy Inferred relationship Some
Fabry's disease Is a True Hereditary nephropathy Inferred relationship Some
Primary hyperoxaluria Is a True Hereditary nephropathy Inferred relationship Some
Renal phosphaturia Is a True Hereditary nephropathy Inferred relationship Some
Hereditary diffuse crescentic glomerulonephritis Is a True Hereditary nephropathy Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Hereditary nephropathy Inferred relationship Some
Melnick-Fraser syndrome Is a True Hereditary nephropathy Inferred relationship Some
Dysmorphic sialidosis with renal involvement Is a True Hereditary nephropathy Inferred relationship Some
Familial renal iminoglycinuria Is a True Hereditary nephropathy Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Hereditary nephropathy Inferred relationship Some
Familial hypokalaemic alkalosis, Gullner type Is a True Hereditary nephropathy Inferred relationship Some
Infantile nephropathic cystinosis Is a True Hereditary nephropathy Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome Is a False Hereditary nephropathy Inferred relationship Some
Lipoprotein glomerulopathy Is a True Hereditary nephropathy Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Hereditary nephropathy Inferred relationship Some
Hereditary nephritis Is a True Hereditary nephropathy Inferred relationship Some
Renal carnitine transport defect Is a True Hereditary nephropathy Inferred relationship Some
Nephroblastoma Is a False Hereditary nephropathy Inferred relationship Some
Congenital nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Some
Renal tubular dysgenesis Is a False Hereditary nephropathy Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True Hereditary nephropathy Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary nephropathy Inferred relationship Some
Autosomal dominant progressive nephropathy with hypertension Is a True Hereditary nephropathy Inferred relationship Some
Enamel-renal syndrome Is a True Hereditary nephropathy Inferred relationship Some
Hereditary papillary renal cell carcinoma Is a False Hereditary nephropathy Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a True Hereditary nephropathy Inferred relationship Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Is a True Hereditary nephropathy Inferred relationship Some
Joubert syndrome with renal defect Is a True Hereditary nephropathy Inferred relationship Some
Genetic steroid-resistant nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome Is a True Hereditary nephropathy Inferred relationship Some
Ulbright Hodes syndrome Is a True Hereditary nephropathy Inferred relationship Some
Bartter syndrome type 4a Is a False Hereditary nephropathy Inferred relationship Some
Acrorenal mandibular syndrome Is a True Hereditary nephropathy Inferred relationship Some
Acrorenoocular syndrome Is a True Hereditary nephropathy Inferred relationship Some
Acrorenal syndrome Is a True Hereditary nephropathy Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Hereditary nephropathy Inferred relationship Some
Hyperuricaemia, anaemia, renal failure syndrome Is a True Hereditary nephropathy Inferred relationship Some
Joubert syndrome with oculorenal defect Is a False Hereditary nephropathy Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Hereditary nephropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a True Hereditary nephropathy Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Hereditary nephropathy Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary nephropathy Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary nephropathy Inferred relationship Some
Perlman syndrome Is a True Hereditary nephropathy Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 Is a False Hereditary nephropathy Inferred relationship Some
Faciocardiorenal syndrome Is a True Hereditary nephropathy Inferred relationship Some
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Is a True Hereditary nephropathy Inferred relationship Some
Multinodular goitre, cystic kidney, polydactyly syndrome Is a False Hereditary nephropathy Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a True Hereditary nephropathy Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome Is a True Hereditary nephropathy Inferred relationship Some
SERKAL syndrome Is a True Hereditary nephropathy Inferred relationship Some
Schimke immuno-osseous dysplasia Is a True Hereditary nephropathy Inferred relationship Some
RHYNS syndrome Is a True Hereditary nephropathy Inferred relationship Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Is a False Hereditary nephropathy Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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