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89655007: Congenital neutropenia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\...

\Disorder of neutrophils (disorder)\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia

\Leukopenia\Neutropenic disorder\Congenital neutropenia

\Procedure related finding\Evaluation finding\Measurement finding\...

\White blood cell number - finding\White blood cell count outside reference range\...

\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia
\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia

\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils (disorder)\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils (disorder)\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital neutropenia	Is a	Neutropenic disorder	true	Inferred relationship	Some
Congenital neutropenia	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Congenital neutropenia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital neutropenia	Is a	Disorder of phagocytic cell number	false	Inferred relationship	Some
Congenital neutropenia	Is a	Quantitative abnormality of granulocytes	false	Inferred relationship	Some
Congenital neutropenia	Severity	Severe	false	Inferred relationship	Some
Congenital neutropenia	Finding site	Leukocyte	false	Inferred relationship	Some
Congenital neutropenia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Congenital neutropenia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital neutropenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital neutropenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Congenital neutropenia	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Congenital neutropenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital neutropenia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Congenital neutropenia	Has definitional manifestation	Neutropenia	false	Inferred relationship	Some
Congenital neutropenia	Is a	Hereditary cancer-predisposing syndrome	false	Inferred relationship	Some
Congenital neutropenia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital neutropenia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital neutropenia	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Congenital neutropenia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital agranulocytosis NEC	Is a	False	Congenital neutropenia	Inferred relationship	Some
Reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Congenital neutropenia	Inferred relationship	Some
Shwachman syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
Periodontitis co-occurrent with infantile genetic agranulocytosis	Is a	False	Congenital neutropenia	Inferred relationship	Some
X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	Is a	True	Congenital neutropenia	Inferred relationship	Some
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.	Is a	True	Congenital neutropenia	Inferred relationship	Some
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.	Is a	True	Congenital neutropenia	Inferred relationship	Some
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	Is a	True	Congenital neutropenia	Inferred relationship	Some
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).	Is a	True	Congenital neutropenia	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.	Is a	True	Congenital neutropenia	Inferred relationship	Some
A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.	Is a	True	Congenital neutropenia	Inferred relationship	Some
A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.	Is a	True	Congenital neutropenia	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
Periodontitis due to infantile genetic agranulocytosis (disorder)	Due to	False	Congenital neutropenia	Inferred relationship	Some	2
Periodontitis due to congenital neutropenia	Due to	True	Congenital neutropenia	Inferred relationship	Some	2
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	True	Congenital neutropenia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
148639013	Congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148641014	Severe infantile genetic neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508614010	Primary neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508616012	Severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832594014	Congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4683591000241113	neutropénie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module