Hereditary nephropathy (disorder)
| Code | 367591000119105 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | defined |
| Effective time | 20150131 |
363338001Hereditary disorder of the urinary system
disorder
90708001Kidney disease
disorder
720414005Acrorenal mandibular syndrome
disorder
720458005Acrorenal syndrome
disorder
720415006Acrorenoocular syndrome
disorder
733116005Aniridia, renal agenesis, psychomotor retardation syndrome
disorder
720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
disorder
722294004Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
disorder
765330003Autosomal dominant polycystic kidney disease
disorder
703310005Autosomal dominant progressive nephropathy with hypertension
disorder
726018006Autosomal dominant tubulointerstitial kidney disease
disorder
707742001Bartter syndrome
disorder
1216942009Cerebral ventriculomegaly, cystic kidney disease
disorder
48796009Congenital nephrotic syndrome
disorder
722118005Congenital nephrotic syndrome due to congenital infection
disorder
722369003Congenital nephrotic syndrome due to diffuse mesangial sclerosis
disorder
236384008Congenital nephrotic syndrome with focal glomerulosclerosis
disorder
733453005Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
disorder
775909002Congenital neutropenia, myelofibrosis, nephromegaly syndrome
disorder
1260142000Congenital vertebral, cardiac, renal anomalies syndrome
disorder
722381004Crome syndrome
disorder
37183000Cystinuria, type 1
disorder
444645005Dent's disease
disorder
50056009Dibasic amino aciduria type 1
disorder
236528009Diffuse mesangial sclerosis with ocular abnormalities
disorder
783620009Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
disorder
236385009Drash syndrome
disorder
81896006Dysmorphic sialidosis with renal involvement
disorder
1351962002EGF-related primary hypomagnesaemia with intellectual disability
disorder
109477002Enamel-renal syndrome
disorder
763280005Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
disorder
16652001Fabry's disease
disorder
723333000Faciocardiorenal syndrome
disorder
15123008Familial amyloid nephropathy with urticaria AND deafness
disorder
62216007Familial arthrogryposis-cholestatic hepatorenal syndrome
disorder
81987005Familial hypokalaemic alkalosis, Gullner type
disorder
46785007Familial juvenile hyperuricaemic nephropathy
disorder
716657000Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome
disorder
1304111007Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis
disorder
717736007Familial renal cell carcinoma
disorder
75652008Familial renal iminoglycinuria
disorder
1187040004Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
disorder
783614008Familial steroid-resistant nephrotic syndrome with sensorineural deafness
disorder
818952002Fibronectin glomerulopathy
disorder
721297008Galloway Mowat syndrome
disorder
718141008Genetic steroid-resistant nephrotic syndrome
disorder
707756004Gitelman syndrome
disorder
1363284002Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
disorder
61598006Glycogenosis with glucoaminophosphaturia
disorder
1217380005HELIX syndrome
disorder
771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome
disorder
367521000119108Hereditary diffuse crescentic glomerulonephritis
disorder
367571000119109Hereditary focal and segmental glomerular lesions
disorder
367581000119107Hereditary minor glomerular abnormality
disorder
399340005Hereditary nephritis
disorder
1367680003Hereditary podocytopathy
disorder
78815005Hereditary tubulointerstitial disorder
disorder
54627004Hereditary xanthinuria
disorder
783159001Holzgreve syndrome
disorder
721840000Hyperuricaemia, anaemia, renal failure syndrome
disorder
776416004Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome
disorder
724282009Hypoparathyroidism, deafness, renal disease syndrome
disorder
723363009Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome
disorder
733097003Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome
disorder
62332007Infantile nephropathic cystinosis
disorder
725905005Infundibulopelvic stenosis multicystic kidney syndrome
disorder
236480003Inherited magnesium-losing nephropathy
disorder
236482006Inherited renal tubule insufficiency with cholestatic jaundice
disorder
716999001Joubert syndrome with renal defect
disorder
722457005Juvenile cataract, microcornea, renal glucosuria syndrome
disorder
782738008Karyomegalic interstitial nephritis
disorder
771447009LAMB2-related infantile-onset nephrotic syndrome
disorder
1237470001Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome
disorder
1237342004Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
disorder
446923008Lipoprotein glomerulopathy
disorder
79385002Lowe syndrome
disorder
303852004Lysinuric protein intolerance
disorder
1169358003MARCH syndrome
disorder
290006Melnick-Fraser syndrome
disorder
782771007Mitochondrial DNA depletion syndrome hepatocerebrorenal form
disorder
773737004NPHP3-related Meckel-like syndrome
disorder
724094005Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome
disorder
723440000Nephrogenic syndrome of inappropriate antidiuresis
disorder
204958008Nephronophthisis
disorder
724093004Nephropathy, deafness, hyperparathyroidism syndrome
disorder
725908007Neurofaciodigitorenal syndrome
disorder
399190000Non-progressive hereditary glomerulonephritis
disorder
41962002Oligohydramnios sequence
disorder
722231005Perlman syndrome
disorder
721970009Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome
disorder
237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
disorder
723449004Pierson syndrome
disorder
28770003Polycystic kidney disease, infantile type
disorder
17901006Primary hyperoxaluria
disorder
723999009RHYNS syndrome
disorder
766765009Radio-renal syndrome
disorder
446449009Renal coloboma syndrome
disorder
763891005Renal hepatic pancreatic dysplasia
disorder
85487008Renal phosphaturia
disorder
236532003Renal tubular acidosis with progressive nerve deafness
disorder
717053007Renal tubulopathy with encephalopathy and liver failure syndrome
disorder
783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations
disorder
723720008SERKAL syndrome
disorder
716094008Saito Kuba Tsuruta syndrome
disorder
254092004Saldino-Mainzer dysplasia
disorder
723995003Schimke immuno-osseous dysplasia
disorder
721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
disorder
1208341008Severe oculo-renal-cerebellar syndrome
disorder
733089005Spastic paraplegia, nephritis, deafness syndrome
disorder
723555007Thymic, renal, anal, lung dysplasia syndrome
disorder
733096007Thyrocerebrorenal syndrome
disorder
771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
disorder
719839000Tubular renal disease with cardiomyopathy syndrome
disorder
719840003Ulbright Hodes syndrome
disorder