chromosome 18 deletion syndrome

Preferred Label : chromosome 18 deletion syndrome;

MeSH synonym : 18q- syndrome; chromosome 18q- syndrome; chromosome 18q deletion syndrome;

MeSH hyponym : Monosomy 18q, deletion 18q; Monosomy 18q syndrome; 18q syndrome;

Details

Origin ID

C536580;

UMLS CUI

C0432443;

CISMeF manual mappings
- Deletions of chromosome 18 [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- 18q syndrome [MedDRA LLT]
- Chromosome 18q deletion syndrome [OMIM Phenotype]
- Deletion 18q Syndrome [NCIt concept]
- Deletion of long arm of chromosome 18 (disorder) [SNOMED CT concept]
- Monosomy 18q [ORDO Disease]
- chromosome 18q deletion syndrome [DO Concept]
DO Cross reference
- chromosome 18q deletion syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 18 [MeSH Descriptor]
Record concept(s)
- Chromosome 18 deletion syndrome [MeSH concept]
- chromosome 18, monosomy 18Q [MeSH concept]
- chromosome 18q syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 18q syndrome [MedDRA LLT]
- Chromosome 18q deletion syndrome [OMIM Phenotype]
- Deletion 18q Syndrome [NCIt concept]
- Deletion of long arm of chromosome 18 (disorder) [SNOMED CT concept]
- Deletions of chromosome 18 [ICD-11 Subcategory]
- Deletions of the long arm of chromosome 18 [ICD-11 Sub-sub category]
- Monosomy 18q [ORDO Disease]
- chromosome 18q deletion syndrome [DO Concept]
Validated automatic mappings to BTNT
- 18q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletions of the long arm of chromosome 18 [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

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