McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. [ Orphanet:2473 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0003427 (MONDO:equivalentTo)
  • MedDRA:10052312 (Orphanet:2473)
  • MESH:C538159 (Orphanet:2473)
  • UMLS:C0948368 (Orphanet:2473)
  • DOID:0111255 (MONDO:equivalentTo)
  • OMIM:236700 (Orphanet:2473)
  • SCTID:702407009 (MONDO:equivalentTo)
  • ICD10:Q87.8 (Orphanet:2473)
  • ICD9:758.89 (i2s)
  • Orphanet:2473 (OMIM:236700)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
HMCS [ GARD:0003427 ]

definition

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

exactMatch

http://identifiers.org/meddra/10052312

http://identifiers.org/omim/236700

http://identifiers.org/snomedct/702407009

http://identifiers.org/mesh/C538159

http://purl.obolibrary.org/obo/DOID_0111255

http://www.orpha.net/ORDO/Orphanet_2473

http://linkedlifedata.com/resource/umls/id/C0948368

has exact synonym

hydrometrocolpos-postaxial polydactyly syndrome

McKusick-Kaufman syndrome

Kaufman-Mckusick syndrome

has related synonym

MKKS

HMCS

McKusick Kaufman syndrome

MCKUSICK-Kaufman syndrome

hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Kaufman McKusick syndrome

hydrometrocolpos syndrome

id

MONDO:0009367

seeAlso

https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome