JSON

severe combined immunodeficiency

^ 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 ]

Term info

database cross reference
  • Orphanet:183660 (MONDO:equivalentTo)
  • HP:0004430 (MONDO:otherHierarchy)
  • MESH:D016511 (Orphanet:183660/e)
  • GARD:0007628 (MONDO:equivalentTo)
  • NCIT:C3472 (MONDO:equivalentTo)
  • MedDRA:10069566 (Orphanet:183660/e)
  • SCTID:31323000 (MONDO:equivalentTo)
  • DOID:627 (MONDO:equivalentTo)
  • UMLS:C0085110 (Orphanet:183660/e)
Subsets

disease_grouping, ordo_group_of_disorders

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

IAO 0000589

severe combined immunodeficiency (disease)

closeMatch

http://identifiers.org/meddra/10069566

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/DOID_627, http://purl.obolibrary.org/obo/NCIT_C3472, http://linkedlifedata.com/resource/umls/id/C0085110, http://identifiers.org/mesh/D016511, http://identifiers.org/snomedct/31323000, http://purl.obolibrary.org/obo/Orphanet_183660

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