microcephaly-cardiac defect-lung malsegmentation syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011050


Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. [ Orphanet:2516 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0002098 (Orphanet-shared)
  • OMIM:601355 (Orphanet:2516)
  • MESH:C563341 (MONDO:equivalentTo)
  • Orphanet:2516 (OMIM:601355)
  • ICD10:Q87.8 (Orphanet:2516)
  • SCTID:719379001 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

closeMatch

http://linkedlifedata.com/resource/umls/id/C1832436

definition

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931129

http://identifiers.org/snomedct/719379001

http://www.orpha.net/ORDO/Orphanet_2516

http://identifiers.org/omim/601355

http://identifiers.org/mesh/C563341

has exact synonym

Ellis-Yale-Winter syndrome

has related synonym

Ellis Yale Winter syndrome

microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs

microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis

id

MONDO:0011050