severe combined immunodeficiency (disease)

Go to external page http://purl.obolibrary.org/obo/MONDO_0015974


Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. [ Orphanet:183660 ]

This is just here as a test because I lose it

Term information

database cross reference
  • COHD:29783 (MONDO:equivalentTo)
  • ICD10:D81.3 (Orphanet:183660)
  • ICD10:D81.1 (Orphanet:183660)
  • DOID:627 (MONDO:equivalentTo)
  • NCIT:C3472 (MONDO:equivalentTo)
  • MedDRA:10069566 (Orphanet:183660)
  • ICD10:D81.0 (Orphanet:183660)
  • SCTID:31323000 (MONDO:equivalentTo)
  • MESH:D016511 (Orphanet:183660)
  • ICD10:D81.2 (Orphanet:183660)
  • Orphanet:183660 (MONDO:equivalentTo)
  • ICD10:D81.9 (Orphanet:183660)
  • UMLS:C0085110 (Orphanet:183660)
  • HP:0004430 (MONDO:otherHierarchy)
  • GARD:0007628 (Orphanet-shared)
Subsets

ordo_group_of_disorders

abbreviation
SCID [ NCIT:C3472 DOID:627 Orphanet:183660 ]

closeMatch

http://identifiers.org/snomedct/190994004

definition

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3472

http://purl.obolibrary.org/obo/DOID_627

http://www.orpha.net/ORDO/Orphanet_183660

http://identifiers.org/mesh/D016511

http://linkedlifedata.com/resource/umls/id/C0085110

http://identifiers.org/snomedct/31323000

http://identifiers.org/meddra/10069566

has exact synonym

severe combined immunodeficiency (disease)

severe combined immunodeficiency disease

combined T and B cell inborn immunodeficiency

severe combined immunodeficiency

SCID

id

MONDO:0015974

Term relations