A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. [ Orphanet:183707 ]

Synonyms: immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis neutrophil immunodeficiency syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:723443003 (MONDO:equivalentTo)
  • GARD:17087 (Orphanet:183707)
  • MESH:C564275 (MONDO:equivalentTo)
  • DOID:0112064 (MONDO:equivalentTo)
  • Orphanet:183707 (OMIM:608203)
  • OMIM:608203 (Orphanet:183707/e)
  • UMLS:C1842398 (Orphanet:183707)
  • GARD:18299 (OMIM:608203)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://identifiers.org/snomedct/723443003

http://purl.obolibrary.org/obo/DOID_0112064

http://identifiers.org/mesh/C564275

http://www.orpha.net/ORDO/Orphanet_183707

http://linkedlifedata.com/resource/umls/id/C1842398

https://omim.org/entry/608203

id

MONDO:0011988

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011988