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trisomy 18

^ http://purl.obolibrary.org/obo/MONDO_0018071

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. [ Orphanet:3380 ]

Term info

database cross reference
  • Orphanet:3380 (MONDO:equivalentTo)
  • MedDRA:10053884 (Orphanet:3380/e)
  • SCTID:51500006 (MONDO:equivalentTo)
  • MESH:C580500 (MONDO:equivalentTo)
  • NCIT:C36626 (MONDO:relatedTo)
  • GARD:0006321 (MONDO:equivalentTo)
  • ICD9:758.2 (MONDO:i2s)
  • UMLS:C0152096 (Orphanet:3380/e)
  • DOID:1085 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10053884

definition

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0152096, http://identifiers.org/snomedct/51500006, http://purl.obolibrary.org/obo/DOID_1085, http://purl.obolibrary.org/obo/Orphanet_3380, http://identifiers.org/mesh/C580500

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020190, http://purl.obolibrary.org/obo/MONDO_0020226, http://purl.obolibrary.org/obo/MONDO_0020186

has exact synonym

chromosome 18 duplication, trisomy type 18, E3 trisomy, trisomy 18, complete trisomy 18 syndrome, Edwards syndrome

has related synonym

chromosome 18 trisomy, trisomy 16-18 (formerly), trisomy E (formerly), 18 trisomy

id

MONDO:0018071

relatedMatch

http://purl.obolibrary.org/obo/NCIT_C36626