hyperargininemia

Preferred Label : hyperargininemia;

MeSH definition : A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51);

MeSH synonym : deficiency diseases, arginase; arginase deficiency disease; hyperargininemias; deficiency disease, arginase; arginase deficiency diseases; argininemia; Deficiencies, Arginase; Deficiency, Arginase; ARG1 Deficiency; ARG1 Deficiencies; Deficiencies, ARG1; Deficiency, ARG1; Arginase Deficiency; Arginase Deficiencies;

Wikipedia link : https://en.wikipedia.org/wiki/Argininemia;

Details

Origin ID

D020162;

UMLS CUI

C0268548;

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]
Automatic exact mappings (from CISMeF team)
- Hyperargininemia [HPO term]
Currated CISMeF NLP mapping
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [LOINC component]
- Argininemia [NCIt concept]
- Argininemia [OMIM Phenotype]
- Argininemia [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininemia [PASCAL descriptor]
- arginase deficiency [Disease (Nov.)]
- arginase deficiency [SNOMED Notion]
- argininemia [Artificial nutrition thesaurus concept]
- hyperargininemia [DO Concept]
DO Cross reference
- hyperargininemia [DO Concept]
Has phenotype(s) (HPO)
- Growth failure [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
MeSH Descriptor(s) used for indexing
- arginase [MeSH Descriptor]
ORDO relation(s)
- Argininemia [ORDO Disease]
Record concept(s)
- hyperargininemia [MeSH concept]
See also
- arginase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arginase 1 deficiency [MedDRA LLT]
- Arginase deficiency [MedDRA Preferred Term]
- Arginase deficiency (disorder) [SNOMED CT concept]
- Argininaemia [ICD-11 Sub-sub category]
- Argininemia [OMIM Phenotype]
- Argininemia [ORDO Disease]
- Argininemia [NCIt concept]
- Argininemia [LOINC component]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Hyperargininaemia [MedDRA LLT]
- Hyperargininemia [NCIt concept]
- Hyperargininemia [HPO term]
- Hyperargininemia [MedDRA LLT]
- arginase deficiency [SNOMED Notion]
- arginase deficiency [Disease (Nov.)]
- hyperargininemia [DO Concept]
Validated automatic mappings to NTBT
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- urea cycle disorder [Disease (Nov.)]

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