polycystic kidney, autosomal recessive

Preferred Label : polycystic kidney, autosomal recessive;

MeSH definition : A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.;

MeSH synonym : autosomal recessive polycystic kidney disease; arpkd; kidney, polycystic, autosomal recessive; polycystic kidney and hepatic disease 1 (autosomal recessive); autosomal recessive polycystic kidney; polycystic kidney disease, autosomal recessive; polycystic kidney disease, infantile, type i; polycystic kidney and hepatic disease 1; polycystic kidney disease, infantile, type 1;

CISMeF synonym : ARPKDs;

Details

Origin ID

D017044;

UMLS CUI

C0085548;

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]
Currated CISMeF NLP mapping
- Autosomal Recessive Polycystic Kidney Disease [NCIt concept]
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- Polycystic kidney, infantile type [ICD-10 Sub-category (who)]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]
DO Cross reference
- autosomal recessive polycystic kidney disease [DO Concept]
Fils d'après SNOMED CT
- congenital abnormalities [MeSH Descriptor]
Indexing information
- IFT88 protein, human [MeSH Supplementary Concept]
- PKHD1 protein, human [MeSH Supplementary Concept]
- PKHD1 protein, rat [MeSH Supplementary Concept]
- PKHD1L1 protein, human [MeSH Supplementary Concept]
- Pkhd1 protein, mouse [MeSH Supplementary Concept]
- Tg737Rpw protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic cystic renal disease [ORDO Disease]
- Male infertility due to obstructive azoospermia [ORDO Disease]
- Rare male infertility [ORDO Disease]
ORDO relation(s)
- Autosomal recessive polycystic kidney disease [ORDO Disease]
Record concept(s)
- polycystic kidney, autosomal recessive [MeSH concept]
Related MeSH Supplementary Concept(s)
- polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia [MeSH Supplementary Concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]
- renal dysplasia diffuse cystic [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Polycystic Kidney Disease [NCIt concept]
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, autosomal recessive [ICD-9 code]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]

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