770942003: Kostmann syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\White blood cell number - finding\White blood cell count abnormal\...

\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Finding of blood, lymphatics and immune system\Blood disease\White blood cell disorder\...

\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Kostmann syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kostmann syndrome
\Disease\Disorder of immune function\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\Kostmann syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Kostmann syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Kostmann syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703544011 Severe congenital neutropenia type 3 en Synonym Active Case insensitive SNOMED CT core

3703545012 Kostmann syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3703546013 Kostmann syndrome en Synonym Active Case sensitive SNOMED CT core

3703547016 Severe congenital neutropaenia type 3 en Synonym Active Case insensitive SNOMED CT core

5014348019 Infantile agranulocytosis en Synonym Active Case insensitive SNOMED CT core

5014349010 Infantile genetic agranulocytosis en Synonym Active Case insensitive SNOMED CT core

3703548014 A rare severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess 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. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kostmann syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Kostmann syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Kostmann syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Some
Kostmann syndrome	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Kostmann syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Kostmann syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Kostmann syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis due to infantile genetic agranulocytosis	Due to	True	Kostmann syndrome	Inferred relationship	Some	2

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703544011	Severe congenital neutropenia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3703545012	Kostmann syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3703546013	Kostmann syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3703547016	Severe congenital neutropaenia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
5014348019	Infantile agranulocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
5014349010	Infantile genetic agranulocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3703548014	A rare severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess 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. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.	en	Definition	Active	Case sensitive	SNOMED CT core