Terminology Service for NFDI4Health

2q24 microdeletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015566


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. [ ]

Term info

Label

2q24 microdeletion syndrome

Synonyms
  • Del(2)(q24)
  • monosomy 2q24
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://linkedlifedata.com/resource/umls/id/CN036809, http://identifiers.org/mesh/C538316, http://identifiers.org/snomedct/719658006, http://purl.obolibrary.org/obo/Orphanet_1617

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020226

has related synonym

chromosome 2q24 microdeletion syndrome, deletion 2q24, 2q24 deletion

id

MONDO:0015566

narrowMatch

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

see also

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