hereditary disease constitutional neutropenia severe congenital neutropenia https://github.com/monarch-initiative/mondo/issues/10437 https://github.com/monarch-initiative/mondo/issues/4069 GARD:0013592 MONDO:0018542 ICD9:288.01 MEDGEN:343974 neutropenia, severe congenital Orphanet:42738 NCIT:C166152 OMIMPS:202700 DOID:0050590 UMLS:C1853118 MedDRA:10052210 SCTID:89655007 A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections. NANDO:1200353 NANDO:2200745 SCN severe chronic neutropenia