acidosis, renal tubular

Preferred Label : acidosis, renal tubular;

MeSH definition : A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.;

MeSH synonym : renal tubular acidosis;

CISMeF acronym : ATR;

MeSH hyponym : renal tubular acidosis, type I; renal tubular acidosis, type II; Proximal Renal Tubular Acidosis; Type II Renal Tubular Acidosis; Renal Tubular Acidosis, Proximal; Renal Tubular Acidosis, Proximal, with Ocular Abnormalities; RTA, Proximal Type; Proximal Type RTA; Proximal Type RTAs; RTAs, Proximal Type; Acidosis, Renal Tubular, Type II; Renal Tubular Acidosis II; Classic Distal Renal Tubular Acidosis; Distal Renal Tubular Acidosis; Renal Tubular Acidosis I; RTA, Gradient Type; Gradient Type RTA; Gradient Type RTAs; RTAs, Gradient Type; Type I Renal Tubular Acidosis; Autosomal Dominant Distal Renal Tubular Acidosis; Renal Tubular Acidosis 1; RTA, Classic Type; Classic Type RTA; Classic Type RTAs; RTAs, Classic Type; RTA, Distal Type, Autosomal Dominant; Acidosis, Renal Tubular, Type I; Renal Tubular Acidosis, Distal, Autosomal Dominant;

Wikipedia link : https://en.wikipedia.org/wiki/Proximal renal tubular acidosis;

Details

Origin ID

D000141;

UMLS CUI

C0001126;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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]
Automatic exact mappings (from CISMeF team)
- ANTXR cell adhesion molecule 1 [ORDO Gene]
- ANTXR1 wt Allele [NCIt concept]
- ATR Gene [NCIt concept]
- ATR serine/threonine kinase [ORDO Gene]
- Anthrax toxin receptor 1 [OMIM gene]
- Atr serine/threonine kinase [OMIM gene]
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal Renal Tubular Acidosis [NCIt concept]
- Proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis [HPO term]
- Proximal renal tubular acidosis [MedDRA LLT]
- Renal tubular acidosis III [OMIM Phenotype]
- Renal tubular acidosis, proximal [OMIM Phenotype]
- Serine/Threonine-Protein Kinase ATR [NCIt concept]
- Serpin peptidase inhibitor, clade a, member 2, pseudogene [OMIM Phenotype]
- proximal renal tubular acidosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Acidosis renal tubular [MedDRA LLT]
- Autosomal dominant distal renal tubular acidosis [ORDO Disease]
- Distal Renal Tubular Acidosis [NCIt concept]
- Distal renal tubular acidosis [OMIM phenotypic series]
- Distal renal tubular acidosis [HPO term]
- Distal renal tubular acidosis [ORDO Disease]
- RENAL ACIDOSIS TUBULAR [WHO-ART Included Term]
- Renal Tubular Acidosis [NCIt concept]
- Renal acidosis tubular [MedDRA LLT]
- Renal tubular acidosis [ICD-11 Sub-sub category]
- Renal tubular acidosis [HPO term]
- Renal tubular acidosis [MedDRA Preferred Term]
- Renal tubular acidosis (disorder) [SNOMED CT concept]
- Type I Renal Tubular Acidosis [NCIt concept]
- hypokalemic distal renal tubular acidosis [SNOMED Notion]
- renal tubular acidosis [DO Concept]
- renal tubular acidosis [Disease (Nov.)]
- renal tubular acidosis, nos [SNOMED Notion]
DO Cross reference
- renal tubular acidosis [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Distal renal tubular acidosis [HPO term]
- FANCONI SYNDROME [WHO-ART Included Term]
- Proximal renal tubular acidosis [HPO term]
- hypokalemic distal renal tubular acidosis [SNOMED Notion]
- proximal renal tubular acidosis [SNOMED Notion]
False automatic mappings
- Distal renal tubular acidosis (disorder) [SNOMED CT concept]
- Hypokalemic distal renal tubular acidosis (disorder) [Inactive SNOMED CT concept]
- Osteomalacia [HPO term]
- Proximal renal tubular acidosis (disorder) [SNOMED CT concept]
HPO term
- Distal renal tubular acidosis [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Renal tubular acidosis [HPO term]
Has phenotype(s) (HPO)
- Growth failure [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal dominant distal renal tubular acidosis [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis with deafness [ORDO Disease]
- Autosomal recessive distal renal tubular acidosis without deafness [ORDO Disease]
- Distal renal tubular acidosis with anemia [ORDO Disease]
- Genetic renal tubular disease [ORDO Disease]
- Proximal renal tubular acidosis [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
Record concept(s)
- acidosis, renal tubular [MeSH concept]
- renal tubular acidosis, type I [MeSH concept]
- renal tubular acidosis, type II [MeSH concept]
Related MeSH Supplementary Concept(s)
- neuroaxonal dystrophy renal tubular acidosis [MeSH Supplementary Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
- renal tubular acidosis, distal, autosomal recessive [MeSH Supplementary Concept]
- renal tubular acidosis, distal, autosomal recessive, with Late-Onset sensorineural hearing loss [MeSH Supplementary Concept]
- renal tubular acidosis, distal, type 3 [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with hemolytic anemia [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with normal red cell morphology [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with progressive nerve deafness [MeSH Supplementary Concept]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH Supplementary Concept]
- whyte murphy fallon sly syndrome [MeSH Supplementary Concept]
SNOMED CT : localisation
- kidney [MeSH Descriptor]
See also (suggested by CISMeF)
- hypoaldosteronism [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acidosis renal tubular [MedDRA LLT]
- RENAL ACIDOSIS TUBULAR [WHO-ART Included Term]
- Renal Tubular Acidosis [NCIt concept]
- Renal acidosis tubular [MedDRA LLT]
- Renal tubular acidosis [MedDRA Preferred Term]
- Renal tubular acidosis [HPO term]
- Renal tubular acidosis [ICD-11 Sub-sub category]
- Renal tubular acidosis (disorder) [SNOMED CT concept]
- renal tubular acidosis [DO Concept]
- renal tubular acidosis [Disease (Nov.)]
- renal tubular acidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Renal tubular acidosis, distal, 1 [OMIM Phenotype]
- Type I renal tubular acidosis [ICD-11 More detail]
- Type II renal tubular acidosis [ICD-11 More detail]
- renal tubular acidosis type I [Disease (Nov.)]
- renal tubular acidosis type II [Disease (Nov.)]

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