telomeric 22q13 monosomy syndrome

Preferred Label : telomeric 22q13 monosomy syndrome;

MeSH synonym : 22q13.3 deletion syndrome; chromosome 22q13.3 deletion syndrome; monosomy 22q13; deletion 22q13.3 syndrome; deletion 22q13 syndrome; 22q13 deletion syndrome; Phelan-McDermid Syndrome;

Details

Origin ID

C536801;

UMLS CUI

C1853490;

Automatic exact mappings (from CISMeF team)
- Phelan-McDermid syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 22q13 deletion [ICD-11 More detail]
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid Syndrome [NCIt concept]
- Phelan-McDermid syndrome [DO Concept]
- Phelan-mcdermid syndrome [OMIM Phenotype]
- chromosome 22q13 deletion syndrome [Disease (Nov.)]
- del(22q13) [NCIt concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 22 [MeSH Descriptor]
Record concept(s)
- Telomeric 22q13 monosomy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid Syndrome [NCIt concept]
- Phelan-McDermid syndrome [MedDRA Preferred Term]
- Phelan-mcdermid syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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