234571003: WHIM-syndroom (aandoening)

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

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

\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\White blood cell disorder\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis

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

\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis

\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\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\...

\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis

\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\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\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\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\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Myelokathexis\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Warts, hypogammaglobulinaemia, infections, and myelokathexis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Warts, hypogammaglobulinaemia, infections, and myelokathexis

Status: current, Not 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
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	Severe combined immunodeficiency disease	true	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Occurrence	Congenital	true	Inferred relationship	Some	1
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	2
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Severity	Severe	false	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	Myelokathexis	true	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	Congenital neutropenia	true	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Interprets	Neutrophil count	true	Inferred relationship	Some	2
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351461010	WHIM - Warts, hypogammaglobulinaemia, infections and myelokathexis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
351462015	WHIM - Warts, hypogammaglobulinemia, infections and myelokathexis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
351463013	Warts, hypogammaglobulinaemia, infections, and myelokathexis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351464019	Warts, hypogammaglobulinemia, infections, and myelokathexis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622910019	Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
691721000146114	WHIM-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
691731000146111	WHIM-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)