Deletion 18q Syndrome

Preferred Label : Deletion 18q Syndrome;

NCIt synonyms : 18Q Syndrome;

NCIt related terms : Chromosome 18q Deletion Syndrome; 18q Deletion Syndrome; 18q-Syndrome;

NCIt definition : A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.;

Details

Origin ID

C84522;

UMLS CUI

C0432443;

Automatic exact mappings (from CISMeF team)
- Distal chromosome 18q deletion syndrome (disorder) [SNOMED CT concept]
- Proximal chromosome 18q deletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 18q deletion [ICD-11 More detail]
- 18q minus syndrome [MedDRA Preferred Term]
- 18q partial monosomy syndrome [SNOMED Notion]
- 18q partial monosomy syndrome (disorder) [SNOMED CT concept]
- 18q syndrome [MedDRA LLT]
- Chromosome 18q deletion syndrome [OMIM Phenotype]
- Deletion of long arm of chromosome 18 (disorder) [SNOMED CT concept]
- Monosomy 18q [ORDO Disease]
- chromosome 18 deletion syndrome [MeSH Supplementary Concept]
- chromosome 18q deletion syndrome [DO Concept]
- chromosome 18q syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 18q syndrome [MedDRA LLT]
- Chromosome 18 deletion syndrome [MeSH concept]
- Chromosome 18q deletion syndrome [OMIM Phenotype]
- 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 18 deletion syndrome [MeSH Supplementary Concept]
- chromosome 18q deletion syndrome [DO Concept]
Validated automatic mappings to NTBT
- Deletions of the long arm of chromosome 18 [ICD-11 Sub-sub category]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- Loss of Chromosome 18q [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 18 [NCIt concept]

Keyword's position in hierarchy(ies) :

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