Congenital anomalies of kidney and urinary tract 2

Preferred Label : Congenital anomalies of kidney and urinary tract 2;

Symbol : CAKUT2;

CISMeF acronym : CAKUT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pelviureteric junction obstruction; Ureteropelvic junction obstruction; Multicystic renal dysplasia, bilateral; Hydronephrosis due to pujo; PUJO; UPJO; MCRD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the T-box 18 gene (TBX18, 604613.0001);

Prefixed ID : #143400;

Details

Origin ID

143400;

UMLS CUI

C5574705;

Automatic exact mappings (from CISMeF team)
- Bilateral multicystic renal dysplasia (disorder) [SNOMED CT concept]
- Congenital hydronephrosis [ORDO Disease]
- Hydronephrosis Due To Pujo [MeSH concept]
- Multicystic renal dysplasia, bilateral [ICD-11 More detail]
- Pelvi-ureteric junction obstruction [MeSH concept]
- multicystic dysplastic kidney [MeSH Descriptor]
Currated CISMeF NLP mapping
- CAKUT2 [DO Concept]
- Obstruction of pelviureteric junction (disorder) [SNOMED CT concept]
- Pelvi-ureteric obstruction [MedDRA Preferred Term]
- Pelviureteric Junction Obstruction [NCIt concept]
- Ureteropelvic junction obstruction [MedDRA LLT]
- Ureteropelvic junction obstruction [HPO term]
- Ureteropelvic junction stenosis [MedDRA LLT]
- obstruction of pelviureteric junction [SNOMED Notion]
- ureteropelvic junction obstruction [Radlex concept]
- ureteropelvic junction obstruction [Disease (Nov.)]
DO Cross reference
- CAKUT2 [DO Concept]
False automatic mappings
- Measurable Residual Disease [NCIt concept]
Genes related to phenotype
- T-box transcription factor 18 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital megaureter [HPO term]
- Cystic renal dysplasia [HPO term]
- Flank pain [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Nephrotic syndrome [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Renal sarcoma [HPO term]
- Ureteropelvic junction obstruction [HPO term]
ORDO concept(s)
- Congenital hydronephrosis [ORDO Disease]
See also inter- (CISMeF)
- Bilateral multicystic dysplastic kidney [ORDO Disease]
- Multicystic renal dysplasia, bilateral [MeSH concept]
- bilateral multicystic dysplastic kidneys [MeSH concept]
- multicystic renal dysplasia, bilateral [MeSH Supplementary Concept]
- ureteropelvic junction obstruction [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Obstruction of pelviureteric junction (disorder) [SNOMED CT concept]
- Pelvi-ureteric obstruction [MedDRA Preferred Term]
- Pelviureteric Junction Obstruction [NCIt concept]
- Ureteropelvic junction obstruction [HPO term]
- Ureteropelvic junction obstruction [MedDRA LLT]
- Ureteropelvic junction stenosis [MedDRA LLT]
- obstruction of pelviureteric junction [SNOMED Notion]
- ureteropelvic junction obstruction [Radlex concept]
- ureteropelvic junction obstruction [DO Concept]
- ureteropelvic junction obstruction [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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