chromosome 18p deletion syndrome

Preferred Label : chromosome 18p deletion syndrome;

MeSH synonym : deletion 18p syndrome; 18p- syndrome; Del(18p) syndrome; 18p deletion syndrome; 18p minus syndrome;

Details

Origin ID

C538309;

UMLS CUI

C0432442;

CISMeF manual mappings
- Monosomy 18p [ORDO Disease]
Currated CISMeF NLP mapping
- 18p partial monosomy syndrome [SNOMED Notion]
- 18p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 18p deletion syndrome [OMIM Phenotype]
- De Grouchy syndrome [ICD-11 More detail]
- Deletion 18p Syndrome [NCIt concept]
- Deletion of short arm of chromosome 18 (disorder) [SNOMED CT concept]
- chromosome 18p deletion syndrome [DO Concept]
- chromosome 18p deletion syndrome [Disease (Nov.)]
DO Cross reference
- chromosome 18p deletion syndrome [DO Concept]
Has phenotype(s) (HPO)
- Dysplastic ears [HPO term]
- Isolated cases [HPO term]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 18 [MeSH Descriptor]
Record concept(s)
- Chromosome 18p deletion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 18p deletion syndrome [OMIM Phenotype]
- De Grouchy syndrome [ICD-11 More detail]
- Deletion 18p Syndrome [NCIt concept]
- 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 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients