Congenital Nephrotic Syndrome

Preferred Label : Congenital Nephrotic Syndrome;

NCIt definition : A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis.;

Alternative definition : NICHD: Nephrotic syndrome occurring within the first three months of life.;

Details

Origin ID

C35337;

UMLS CUI

C3501848;

Automatic exact mappings (from CISMeF team)
- Congenital nephrotic syndrome [ICD-11 More detail]
- Nephrotic syndrome [ICD-10 category]
- Nephrotic syndrome [ICD-10 category (who)]
Currated CISMeF NLP mapping
- Congenital nephrotic syndrome [HPO term]
- Congenital nephrotic syndrome [MedDRA Preferred Term]
- Congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Familial nephrotic syndrome [MedDRA LLT]
- Nephrotic syndrome, type 1 [OMIM Phenotype]
- congenital nephrotic syndrome [Disease (Nov.)]
- congenital nephrotic syndrome [SNOMED Notion]
- familial nephrotic syndrome [DO Concept]
- nephrosis, congenital [MeSH Supplementary Concept]
DO Cross reference
- familial nephrotic syndrome [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 [HPO term]
- Congenital nephrotic syndrome [MedDRA Preferred Term]
- Congenital nephrotic syndrome (disorder) [SNOMED CT concept]
- Familial nephrotic syndrome [MedDRA LLT]
- congenital nephrotic syndrome [Disease (Nov.)]
- familial nephrotic syndrome [DO Concept]
- nephrosis, congenital [MeSH concept]
- nephrosis, congenital [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- nephrotic syndrome type 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]

Keyword's position in hierarchy(ies) :

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