FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

367591000119105: Hereditary nephropathy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3012627014 Hereditary nephropathy en Synonym Active Entire term case insensitive SNOMED CT core module
3881056012 Inherited renal disease en Synonym Active Entire term case insensitive SNOMED CT core module
3881057015 Hereditary disorder of kidney en Synonym Active Entire term case insensitive SNOMED CT core module

161 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary nephropathy Is a Kidney disease true Inferred relationship Existential restriction modifier
Hereditary nephropathy Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier
Hereditary nephropathy Finding site Kidney structure true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dent's disease Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Fabry's disease Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Primary hyperoxaluria Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal phosphaturia Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary diffuse crescentic glomerulonephritis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary tubulointerstitial disorder Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Melnick-Fraser syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Dysmorphic sialidosis with renal involvement Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial renal iminoglycinuria Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Glycogenosis with glucoaminophosphaturia Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial hypokalemic alkalosis, Gullner type Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Infantile nephropathic cystinosis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Lipoprotein glomerulopathy Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary nephritis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal carnitine transport defect Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Nephroblastoma Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal tubular dysgenesis Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Autosomal dominant progressive nephropathy with hypertension Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Enamel-renal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary papillary renal cell carcinoma Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Fibulo-ulnar hypoplasia and renal anomalies syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Joubert syndrome with renal defect Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Genetic steroid-resistant nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Tubular renal disease with cardiomyopathy syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal dysplasia with limb defect syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Bartter syndrome type 4a Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Acrorenal mandibular syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Acrorenoocular syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Acrorenal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hyperuricemia, anemia, renal failure syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Joubert syndrome with oculorenal defect Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Perlman syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Glomerulopathy with fibronectin deposits 2 Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Faciocardiorenal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Multinodular goiter, cystic kidney, polydactyly syndrome Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Nephrogenic syndrome of inappropriate antidiuresis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Thymic, renal, anal, lung dysplasia syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hypoparathyroidism, deafness, renal disease syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Infundibulopelvic stenosis multicystic kidney syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Autosomal dominant tubulointerstitial kidney disease Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Thyrocerebrorenal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Spastic paraplegia, nephritis, deafness syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal coloboma syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Autosomal dominant tubulointerstitial disease Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Renal hepatic pancreatic dysplasia Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial renal cell carcinoma Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary clear cell renal cell carcinoma Is a False Hereditary nephropathy Inferred relationship Existential restriction modifier
Autosomal dominant polycystic kidney disease Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Radio-renal syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Laminin subunit beta 2 related infantile-onset nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Drash syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Pierson syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome due to diffuse mesangial sclerosis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Galloway Mowat syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome due to congenital infection Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Cystinuria, type 1 Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Karyomegalic interstitial nephritis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Leigh syndrome with nephrotic syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Thin basement membrane disease Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Polycystic kidney disease, infantile type Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Inherited magnesium-losing nephropathy Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary focal and segmental glomerular lesions Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Hereditary minor glomerular abnormality Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Oligohydramnios sequence Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Non-progressive hereditary glomerulonephritis Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier
Lowe syndrome Is a True Hereditary nephropathy Inferred relationship Existential restriction modifier

Page 1 of 2 End

This concept is not in any reference sets

Back to Start