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Request for new term [severe chronic neutropenia] #10437

Description

@galyea123

Label

severe chronic neutropenia

Synonyms

neutropenia, severe chronic

Synonym type

exact

Definition

Severe chronic neutropenia is a heterogeneous group of rare congenital and acquired disorders characterized by a persistent absolute neutrophil count (ANC) below 0.5 × 10⁹/L for at least 3 months, resulting in an increased risk of recurrent and potentially life-threatening bacterial and fungal infections. The major clinical subtypes include congenital, cyclic, idiopathic, and autoimmune neutropenia, which share common diagnostic evaluation, treatment strategies, and long-term follow-up. The Severe Chronic Neutropenia International Registry (SCNIR) has followed thousands of patients over decades.

Parent term

chronic neutropenia

Children term(s)

severe congenital neutropenia, cyclic neutropenia , chronic idiopathic neutropenia, chronic autoimmune neutropenia

ORCID Identifier

0000-001-9310-0163

Website URL

https://rarediseases.org/rare-diseases/severe-chronic-neutropenia/

Additional comments

We have a NORD report. Thank you, Gioconda Alyea

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