Terminology Service for NFDI4Health

partial deletion of the long arm of chromosome 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0016901


Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [ ]

Term info

Label

partial deletion of the long arm of chromosome 2

Synonyms
  • partial deletion of chromosome 2q
  • partial deletion of the long arm of chromosome type 2
  • partial monosomy of chromosome 2q
  • partial monosomy of the long arm of chromosome 2
database cross reference
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/Orphanet_262010, http://identifiers.org/mesh/C538315, http://linkedlifedata.com/resource/umls/id/C0795804

has related synonym

2q deletion, 2q monosomy, deletion 2q, monosomy 2q, partial monosomy 2q, chromosome 2q deletion

id

MONDO:0016901

narrowMatch

https://icd.codes/icd10cm/Q93.5

see also

https://github.com/monarch-initiative/mondo/issues/3664

Term relations