22q Telomere Deletion Syndrome

Preferred Label : 22q Telomere Deletion Syndrome;

NCIt synonyms : Chromosome 22q Telomere Deletion Syndrome;

NCIt definition : A genetic syndrome caused by terminal 22q13 microdeletions. It is characterized by developmental delay and delayed or absent speech.;

Details

Origin ID

C75478;

UMLS CUI

C2699200;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 22 [NCIt concept]

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