Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. [ Orphanet:191 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D003057 (Orphanet:191)
  • GARD:0006122 (Orphanet-shared)
  • DOID:2962 (MONDO:equivalentTo)
  • Orphanet:191 (MONDO:equivalentTo)
  • ICD10:Q87.1 (Orphanet:191)
  • UMLS:C0009207 (Orphanet:191)
  • SCTID:21086008 (MONDO:equivalentTo)
  • NCIT:C9460 (MONDO:equivalentTo)
  • ICD9:759.89 (i2s)
  • MedDRA:10009835 (Orphanet:191)
Subsets

ordo_disease

closeMatch

http://identifiers.org/snomedct/205832003

definition

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

exactMatch

http://identifiers.org/snomedct/21086008

http://purl.obolibrary.org/obo/DOID_2962

http://www.orpha.net/ORDO/Orphanet_191

http://identifiers.org/mesh/D003057

http://linkedlifedata.com/resource/umls/id/C0009207

http://purl.obolibrary.org/obo/NCIT_C9460

http://identifiers.org/meddra/10009835

has exact synonym

Neill-Dingwall syndrome

has related synonym

Cockayne's syndrome

dwarfism-retinal atrophy-deafness syndrome

progeroid nanism

progeria-like syndrome

id

MONDO:0016006

narrowMatch

http://identifiers.org/omim/216411