JSON

cutis laxa

^ http://purl.obolibrary.org/obo/MONDO_0016175

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. [ Orphanet:209 ]

Term info

database cross reference
  • Orphanet:209 (MONDO:equivalentTo)
  • SCTID:58588007 (MONDO:equivalentTo)
  • MedDRA:10011692 (Orphanet:209/e)
  • MESH:D003483 (Orphanet:209/e)
  • GARD:0006227 (MONDO:equivalentTo)
  • UMLS:C0010495 (Orphanet:209/e)
  • DOID:3144 (MONDO:equivalentTo)
  • NCIT:C84663 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10011692

definition

Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

exactMatch

http://identifiers.org/mesh/D003483, http://purl.obolibrary.org/obo/DOID_3144, http://identifiers.org/snomedct/58588007, http://purl.obolibrary.org/obo/Orphanet_209, http://linkedlifedata.com/resource/umls/id/C0010495, http://purl.obolibrary.org/obo/NCIT_C84663

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015216

has exact synonym

cutis laxa, loose skin, elastolysis

has related synonym

generalized elastolysis

id

MONDO:0016175

seeAlso

https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa