adult-onset citrullinemia type 2

Preferred Label : adult-onset citrullinemia type 2;

CISMeF synonym : adult-onset citrullinemia type II; Autosomal dominant retinoschisis;

MeSH synonym : Citrullinemia, Type II, Adult-Onset; Citrin deficiency;

Details

Origin ID

C538053;

UMLS CUI

C1863844;

Automatic exact mappings (from CISMeF team)
- Citrin deficiency [ORDO Disease]
- Citrin deficiency [ICD-11 More detail]
- Citrin deficiency [MedDRA LLT]
- Citrin deficiency (disorder) [SNOMED CT concept]
- adult-onset type II citrullinemia [DO Concept]
Currated CISMeF NLP mapping
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
False automatic mappings
- Retinoschisis, autosomal dominant [OMIM Phenotype]
MeSH term(s) associated for indexing
- citrullinemia [MeSH Descriptor]
Record concept(s)
- Adult-onset citrullinemia type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia Type II [NCIt concept]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- citrin deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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