Congenital neutropenia

Congenital neutropenia (disorder)

active

Code	`89655007`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

Synonyms

Primary neutropenia
Severe congenital neutropenia
Severe infantile genetic neutropenia

Parents (2)

36138009Congenital immunodeficiency disease disorder
303011007Neutropenic disorder disorder

Children (16)

770947009Autosomal dominant severe congenital neutropaenia disorder
783201001Autosomal recessive severe congenital neutropenia due to CSF3R deficiency disorder
783200000Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency disorder
783058007Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency disorder
783199003Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency disorder
1371048007Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency disorder
775909002Congenital neutropenia, myelofibrosis, nephromegaly syndrome disorder
770942003Kostmann syndrome disorder
725137007Neutropenia, monocytopenia, deafness syndrome disorder
1003381002Onycho-tricho-dysplasia neutropenia syndrome disorder
111584000Reticular dysgenesis disorder
190996002Severe combined immunodeficiency with reticular dysgenesis disorder
89454001Shwachman syndrome disorder
234571003Warts, hypogammaglobulinaemia, infections, and myelokathexis disorder
782759001X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia disorder
718882006X-linked severe congenital neutropenia disorder