del(22q13) - CISMeF

Preferred Label : del(22q13);

NCIt synonyms : del 22q13;

NCIt definition : A cytogenetic abnormality characterized by any loss of genetic material from the long arm of chromosome 21 within the band at 21q13.;

Details

Origin ID

C36580;

UMLS CUI

C1515594;

Currated CISMeF NLP mapping
- 22q13 deletion [ICD-11 More detail]
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Phelan-McDermid syndrome [ORDO Disease]
- Phelan-McDermid syndrome [DO Concept]
- Phelan-mcdermid syndrome [OMIM Phenotype]
- chromosome 22q13 deletion syndrome [Disease (Nov.)]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 22 [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Localized Chondrosarcoma [NCIt concept]
- Locally Advanced Chondrosarcoma [NCIt concept]
- Locally Advanced Unresectable Primary Central Chondrosarcoma [NCIt concept]
- Metastatic Chondrosarcoma [NCIt concept]
- Metastatic Primary Central Chondrosarcoma [NCIt concept]
- Primary Central Chondrosarcoma [NCIt concept]
- Recurrent Chondrosarcoma [NCIt concept]
- Unresectable Primary Central Chondrosarcoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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