Deletion 18p Syndrome

Preferred Label : Deletion 18p Syndrome;

NCIt synonyms : 18P Syndrome;

NCIt definition : A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis.;

Details

Origin ID

C84521;

UMLS CUI

C0432442;

Currated CISMeF NLP mapping
- 18p partial monosomy syndrome [SNOMED Notion]
- 18p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 18p deletion syndrome [MeSH concept]
- Chromosome 18p deletion syndrome [OMIM Phenotype]
- De Grouchy syndrome [ICD-11 More detail]
- Deletion of short arm of chromosome 18 (disorder) [SNOMED CT concept]
- Monosomy 18p [ORDO Disease]
- chromosome 18p deletion syndrome [MeSH Supplementary Concept]
- chromosome 18p deletion syndrome [DO Concept]
- chromosome 18p deletion syndrome [Disease (Nov.)]
DO Cross reference
- chromosome 18p deletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 18p deletion syndrome [MeSH concept]
- Chromosome 18p deletion syndrome [OMIM Phenotype]
- De Grouchy syndrome [ICD-11 More detail]
- Deletion of short arm of chromosome 18 (disorder) [SNOMED CT concept]
- Deletions of the short arm of chromosome 18 [ICD-11 Sub-sub category]
- Monosomy 18p [ORDO Disease]
- Partial deletion of the short arm of chromosome 18 [ORDO Disease]
- chromosome 18p deletion syndrome [MeSH Supplementary Concept]
- chromosome 18p deletion syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- Loss of Chromosome 18p [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 18 [NCIt concept]

Keyword's position in hierarchy(ies) :

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