1p36 deletion - CISMeF

Preferred Label : 1p36 deletion;

ICD-11 definition : Monosomy 1p36 is a distinct chromosome deletion syndrome characterized by usually severe developmental delay, behavioral difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described.;

ICD-11 synonym : 1p36 deletion syndrome;

Details

Origin ID

1248053946;

UMLS CUI

C1842870;

Automatic exact mappings (from CISMeF team)
- 1p36 deletion syndrome [MedDRA Preferred Term]
- Deletion 1p36 (morphologic abnormality) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 1p36 Deletion Syndrome [NCIt concept]
- 1p36 deletion syndrome [ORDO Disease]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1p36 deletion syndrome, distal [OMIM Phenotype]
- chromosome 1p36 deletion syndrome [DO Concept]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]
- chromosome 1p36 deletion syndrome [MeSH concept]
See also inter- (CISMeF)
- del(1p36) [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1p36 Deletion Syndrome [NCIt concept]
- 1p36 deletion syndrome [ORDO Disease]
- 1p36 deletion syndrome [MedDRA Preferred Term]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1p36 deletion syndrome, distal [OMIM Phenotype]
- chromosome 1p36 deletion syndrome [DO Concept]
- chromosome 1p36 deletion syndrome [MeSH concept]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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