citrullinemia - CISMeF

Preferred Label : citrullinemia;

MeSH definition : A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49);

MeSH synonym : citrullinurias; deficiency disease, argininosuccinate synthase; citrullinemias; argininosuccinic acid synthase deficiency disease; argininosuccinic acid synthetase deficiency disease; citrullinuria; deficiency disease, argininosuccinic acid synthase; argininosuccinate synthase deficiency disease; Argininosuccinate Synthetase Deficiency; Argininosuccinate Synthetase Deficiencies; Deficiencies, Argininosuccinate Synthetase; Deficiency, Argininosuccinate Synthetase; Argininosuccinic Acid Synthetase Deficiency; ASS Deficiency; ASS Deficiencies; Deficiency, ASS;

CISMeF synonym : Citrullinemia 1; Deficiencies, ASS; Type 1, Citrullinemia;

MeSH hyponym : argininosuccinic acid synthetase deficiency disease, partial; argininosuccinic acid synthetase deficiency, complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease; Citrullinemia, Late-Onset; Citrullinemia, Late Onset; Citrullinemias, Late-Onset; Late-Onset Citrullinemia; Late-Onset Citrullinemias; Deficiency, Argininosuccinic Acid Synthetase, Complete; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Citrullinemia, Classical; Citrullinemias, Classical; Classical Citrullinemia; Classical Citrullinemias; Citrullinemia, Neonatal; Citrullinemias, Neonatal; Neonatal Citrullinemia; Neonatal Citrullinemias; Citrullinemia, Type I; Type I Citrullinemia; Type I Citrullinemias; Citrullinemia Type 1; Citrullinemia, Classic; Citrullinemias, Classic; Classic Citrullinemia; Classic Citrullinemias;

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

Details

Origin ID

D020159;

UMLS CUI

C0175683;

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)
- Citrin deficiency (disorder) [SNOMED CT concept]
- Citrullinemia, neonatal type (disorder) [SNOMED CT concept]
- Citrullinuria [HPO term]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- citrullinemia [Artificial nutrition thesaurus concept]
- citrullinemia, neonatal type [SNOMED Notion]
- classic citrullinemia [DO Concept]
Currated CISMeF NLP mapping
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [ICD-11 Sub-sub category]
- Citrullinaemia [MedDRA LLT]
- Citrullinaemia type 1 [ICD-11 More detail]
- Citrullinaemia type I [MedDRA LLT]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [NCIt concept]
- Citrullinemia [ORDO Disease]
- Citrullinemia [MedDRA LLT]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia Type I [NCIt concept]
- Citrullinemia type I [MedDRA LLT]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia type I (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [Disease (Nov.)]
- citrullinemia [DO Concept]
- citrullinemia [SNOMED Notion]
DO Cross reference
- citrullinemia [DO Concept]
Manual NTBT mappings (CISMeF)
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
ORDO relation(s)
- Citrullinemia [ORDO Disease]
Record concept(s)
- Citrullinemia 1 [MeSH concept]
- argininosuccinic acid synthetase deficiency disease, partial [MeSH concept]
- argininosuccinic acid synthetase deficiency, complete [MeSH concept]
- citrullinemia [MeSH concept]
Related MeSH Supplementary Concept(s)
- CTNL1 [MeSH Supplementary Concept]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
- neonatal-onset citrullinemia type 2 [MeSH Supplementary Concept]
See also
- argininosuccinate synthase [MeSH Descriptor]
See also (suggested by CISMeF)
- citrulline [MeSH Descriptor]
See also inter- (CISMeF)
- Low plasma citrulline [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Argininosuccinate synthetase deficiency [MedDRA Preferred Term]
- Citrullinaemia [MedDRA LLT]
- Citrullinemia [ORDO Disease]
- Citrullinemia [PASCAL descriptor]
- Citrullinemia [NCIt concept]
- Citrullinemia [MedDRA LLT]
- Citrullinemia (disorder) [SNOMED CT concept]
- Citrullinemia, classic [OMIM Phenotype]
- Citrullinuria [HPO term]
- Citrullinuria (finding) [SNOMED CT concept]
- Deficiency of argininosuccinate synthase (disorder) [SNOMED CT concept]
- citrullinemia [DO Concept]
- citrullinemia [Disease (Nov.)]
- citrullinemia [SNOMED Notion]

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