nephritis, hereditary

Preferred Label : nephritis, hereditary;

MeSH definition : A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.;

MeSH synonym : familial nephritis; hereditary nephritis; nephritis, familial; hereditary interstitial pyelonephritis; pyelonephritis, hereditary interstitial;

CISMeF synonym : Alport; alport syndromes; alports syndrome; familial nephritides; hereditary nephritides; nephritides, familial; nephritides, hereditary; syndrome, alport's; syndrome, X-Linked alport; syndromes, alport;

MeSH hyponym : alport syndrome, X-Linked; alport syndrome; alport syndrome, autosomal dominant; alport syndrome, autosomal recessive; Hemorrhagic hereditary nephritis; Nephritis, Hemorrhagic Hereditary; Hemorrhagic Familial Nephritis; Nephritis, Hemorrhagic Familial; Hereditary Hematuria Syndrome; Congenital Hereditary Hematuria; Hematuria, Congenital Hereditary; Hematuric Hereditary Nephritis; Nephritis, Hematuric Hereditary; Hereditary Familial Congenital Hemorrhagic Nephritis; Alport Syndrome, X Linked; X-Linked Alport Syndrome; Syndrome, Alport; Hematuria-Nephropathy-Deafness Syndrome; Hematuria Nephropathy Deafness Syndrome; Syndrome, Hematuria-Nephropathy-Deafness; Alport's Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Alport's syndrome;

Details

Origin ID

D009394;

UMLS CUI

C0027706;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Alport syndrome 1, X-linked [OMIM Phenotype]
- Alport syndrome 2, autosomal recessive [OMIM Phenotype]
- Alport syndrome 3, autosomal dominant [OMIM Phenotype]
- Alport syndrome X-linked (disorder) [SNOMED CT concept]
- Alport syndrome autosomal dominant (disorder) [SNOMED CT concept]
- Alport syndrome autosomal recessive (disorder) [SNOMED CT concept]
- Alport syndrome, X-linked [ICD-11 More detail]
- Alport syndrome, autosomal dominant [ICD-11 More detail]
- Alport syndrome, autosomal recessive [ICD-11 More detail]
- Autosomal dominant Alport syndrome [ORDO Disease]
- Autosomal recessive Alport syndrome [ORDO Disease]
- X-linked Alport syndrome [DO Concept]
- X-linked Alport syndrome [ORDO Disease]
- autosomal recessive Alport syndrome [DO Concept]
Currated CISMeF NLP mapping
- Alport syndrome [PASCAL descriptor]
- Alport syndrome [Disease (Nov.)]
- Alport syndrome [DO Concept]
- Alport syndrome [ICD-11 More detail]
- Alport syndrome [OMIM phenotypic series]
- Alport syndrome (disorder) [SNOMED CT concept]
- Alport's syndrome [MedDRA Preferred Term]
- Alport's syndrome (disorder) [Inactive SNOMED CT concept]
- Hereditary nephritis (disorder) [SNOMED CT concept]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
- hereditary nephritis [Disease (Nov.)]
- hereditary nephritis [Radlex concept]
- hereditary nephritis [SNOMED Notion]
DO Cross reference
- Alport syndrome [DO Concept]
Has phenotype(s) (HPO)
- Usually autosomal dominant [HPO term]
Indexing information
- C3 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Basement membrane disease [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Renal disease with cataract [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
ORDO relation(s)
- Alport syndrome [ORDO Disease]
Record concept(s)
- Hemorrhagic hereditary nephritis [MeSH concept]
- alport syndrome [MeSH concept]
- alport syndrome, X-Linked [MeSH concept]
- alport syndrome, autosomal dominant [MeSH concept]
- alport syndrome, autosomal recessive [MeSH concept]
- nephritis, hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- MYH9-Related Disorders [MeSH Supplementary Concept]
- alport Syndrome-Like hereditary nephritis [MeSH Supplementary Concept]
- alport syndrome, dominant type [MeSH Supplementary Concept]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary Concept]
- alport syndrome, recessive type [MeSH Supplementary Concept]
- daentl towsend siegel syndrome [MeSH Supplementary Concept]
- deafness nephritis ano rectal malformation [MeSH Supplementary Concept]
- leiomyomatosis, esophageal and vulval, with nephropathy [MeSH Supplementary Concept]
- nephropathy, progressive, with deafness [MeSH Supplementary Concept]
- renal failure, progressive, with hypertension [MeSH Supplementary Concept]
- salcedo syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- deafness [MeSH Descriptor]
See also inter- (CISMeF)
- Alport syndrome [ORDO Disease]
- Zellweger syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alport syndrome [DO Concept]
- Chronic hereditary nephritis [MedDRA LLT]
- Hereditary nephritis (disorder) [SNOMED CT concept]
- hereditary nephritis [SNOMED Notion]
- hereditary nephritis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Alport Syndrome [NCIt concept]
- autosomal dominant Alport syndrome [DO Concept]
- autosomal recessive Alport syndrome [Disease (Nov.)]
- x linked Alport syndrome [Disease (Nov.)]

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