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severe combined immunodeficiency

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 ]

Synonyms: severe combined immunodeficiency (disease) severe combined immunodeficiency disease combined T and B cell inborn immunodeficiency severe combined immunodeficiency SCID

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D016511 (Orphanet:183660/e)
  • HP:0004430 (MONDO:otherHierarchy)
  • NCIT:C3472 (MONDO:equivalentTo)
  • SCTID:31323000 (MONDO:equivalentTo)
  • NORD:1706 (MONDO:NORD)
  • Orphanet:183660 (MONDO:equivalentTo)
  • GARD:7628 (MONDO:GARD)
  • UMLS:C0085110 (MONDO:equivalentTo)
  • MedDRA:10069566 (Orphanet:183660/e)
  • MEDGEN:88328 (MONDO:equivalentTo)
  • icd11.foundation:963193284 (https://orcid.org/0000-0001-5208-3432)
  • DOID:627 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, harrisons_view_immune_system_disorder, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, mondo_top_grouping_immune_system_disorder, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders

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

ClinGen label
severe combined immunodeficiency [ MONDO:ambiguous Orphanet:183660 NCIT:C3472 DOID:627 ]

OBO foundry unique label

severe combined immunodeficiency (disease)

closeMatch

http://identifiers.org/meddra/10069566

exactMatch

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

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

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

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

http://identifiers.org/mesh/D016511

http://identifiers.org/snomedct/31323000

http://identifiers.org/medgen/88328

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/963193284

id

MONDO:0015974

Term relations