89655007: Congenital neutropenia (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
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia
\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
\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
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia
\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
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia

\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
\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia

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

\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

\Leucopenia\Neutropenic disorder\Congenital neutropenia

\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
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia
\Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia
\Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

148639013 Congenital neutropenia en Synonym Active Case insensitive SNOMED CT core

148641014 Severe infantile genetic neutropenia en Synonym Active Case insensitive SNOMED CT core

508614010 Primary neutropenia en Synonym Active Case insensitive SNOMED CT core

508616012 Severe congenital neutropenia en Synonym Active Case insensitive SNOMED CT core

832594014 Congenital neutropenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital neutropenia	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Congenital neutropenia	Finding site	Haematopoietic 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	Neutrophil count below reference range	false	Inferred relationship	Some
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 haematopoietic 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	Is a	Hereditary neoplastic 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	Severity	Severe	false	Inferred relationship	Some
Congenital neutropenia	Finding site	Leucocyte	false	Inferred relationship	Some
Congenital neutropenia	Finding site	Structure of immune system	false	Inferred relationship	Some
Congenital neutropenia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital neutropenia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neutropenia, monocytopenia, deafness syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Is a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	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	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
Reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis	Is a	True	Congenital neutropenia	Inferred relationship	Some
Shwachman syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some
Congenital agranulocytosis NEC	Is a	False	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 a	True	Congenital neutropenia	Inferred relationship	Some
Autosomal dominant severe congenital neutropaenia	Is a	True	Congenital neutropenia	Inferred relationship	Some
Kostmann syndrome	Is a	True	Congenital neutropenia	Inferred relationship	Some

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
148639013	Congenital neutropenia	en	Synonym	Active	Case insensitive	SNOMED CT core
148641014	Severe infantile genetic neutropenia	en	Synonym	Active	Case insensitive	SNOMED CT core
508614010	Primary neutropenia	en	Synonym	Active	Case insensitive	SNOMED CT core
508616012	Severe congenital neutropenia	en	Synonym	Active	Case insensitive	SNOMED CT core
832594014	Congenital neutropenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core