Alport Syndrome

Preferred Label : Alport Syndrome;

NCIt synonyms : Hereditary Nephritis; Alport's Syndrome; Alport s Syndrome;

NCIt definition : A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.;

Alternative definition : NICHD: A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.;

Details

Origin ID

C34842;

UMLS CUI

C1567741;

Currated CISMeF NLP mapping
- Alport syndrome [PASCAL descriptor]
- Alport syndrome [DO Concept]
- Alport syndrome [ICD-11 More detail]
- Alport syndrome [OMIM phenotypic series]
- Alport syndrome [ORDO Disease]
- Alport syndrome (disorder) [SNOMED CT concept]
- Alport's syndrome [MedDRA Preferred Term]
- alport syndrome [MeSH concept]
- hereditary nephritis [Radlex concept]
See also inter- (CISMeF)
- Zellweger syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alport syndrome [ORDO Disease]
- Alport syndrome (disorder) [SNOMED CT concept]
- Alport's syndrome [MedDRA Preferred Term]
- alport syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Alport syndrome [Disease (Nov.)]
- 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 [SNOMED Notion]
- nephritis, hereditary [MeSH Descriptor]
- nephritis, hereditary [MeSH concept]
associated_with_malfunction_of_gene_product
- Collagen Alpha-3(IV) Chain [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_associated_gene
- COL4A3 Gene [NCIt concept]
- COL4A3 wt Allele [NCIt concept]
- COL4A5 Gene [NCIt concept]
- COL4A5 wt Allele [NCIt concept]
disease_mapped_to_gene
- COL4A5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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