Nephrotic Syndrome - NPHS1 Associated

Preferred Label : Nephrotic Syndrome - NPHS1 Associated;

NCIt related terms : Congenital Nephrotic Syndrome - Finnish Type;

NCIt definition : Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.;

Details

Origin ID

C122795;

UMLS CUI

C0403399;

Currated CISMeF NLP mapping
- Congenital Finnish nephrosis [ICD-11 More detail]
- Congenital nephrotic syndrome - finnish type [MedDRA LLT]
- Congenital nephrotic syndrome, Finnish type [ORDO Disease]
- Finnish congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Nephrotic syndrome, type 1 [OMIM Phenotype]
- nephrosis, congenital [MeSH Supplementary Concept]
- nephrosis, congenital [MeSH concept]
- nephrotic syndrome type 1 [DO Concept]
- nephrotic syndrome type 1 [Disease (Nov.)]
- nephrotic syndrome, type 1 [MeSH concept]
DO Cross reference
- nephrotic syndrome type 1 [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital nephrotic syndrome - finnish type [MedDRA LLT]
- Congenital nephrotic syndrome, Finnish type [ORDO Disease]
- Finnish congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Nephrotic syndrome, type 1 [OMIM Phenotype]
- nephrotic syndrome type 1 [DO Concept]
- nephrotic syndrome, type 1 [MeSH 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_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- NPHS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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