772126000: Poikiloderma with 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\Poikiloderma with neutropenia
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Poikiloderma with 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\Poikiloderma with 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\Poikiloderma with neutropenia
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Poikiloderma with 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\Poikiloderma with neutropenia
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Poikiloderma with 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\Poikiloderma with neutropenia
\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Poikiloderma with neutropenia

\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Poikiloderma with neutropenia

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia

\Chronic disease of skin\Poikiloderma with neutropenia

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

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Poikiloderma with neutropenia

\White blood cell disorder\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Poikiloderma with neutropenia
\White blood cell disorder\Leucopenia\Neutropenic disorder\Poikiloderma with neutropenia

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Poikiloderma with neutropenia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Poikiloderma with neutropenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Poikiloderma with neutropenia
\Disease\Disorder of immune function\Chronic disease of immune function\Poikiloderma with neutropenia
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Poikiloderma with 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\Poikiloderma with neutropenia
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Poikiloderma with neutropenia
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Poikiloderma with neutropenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Poikiloderma with neutropenia
\Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Poikiloderma with neutropenia
\Disease\Degenerative disorder\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Poikiloderma with neutropenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Poikiloderma with neutropenia
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Poikiloderma with neutropenia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia
\Disease\Chronic disease\Chronic disease of immune function\Poikiloderma with neutropenia
\Disease\Chronic disease\Chronic disease of skin\Poikiloderma with neutropenia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Poikiloderma with neutropenia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Poikiloderma with neutropenia

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

Descriptions:

Id Description Lang Type Status Case? Module

3717147017 Poikiloderma with neutropenia en Synonym Active Case insensitive SNOMED CT core

3717148010 Poikiloderma with neutropenia Clericuzio type en Synonym Active Initial character case insensitive SNOMED CT core

3717150019 Poikiloderma with neutropenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3716696016 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Poikiloderma with neutropenia	Finding site	Skin structure	true	Inferred relationship	Some	2
Poikiloderma with neutropenia	Associated morphology	Poikiloderma	true	Inferred relationship	Some	2
Poikiloderma with neutropenia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Poikiloderma with neutropenia	Is a	Chronic disease of skin	true	Inferred relationship	Some
Poikiloderma with neutropenia	Is a	Neutropenic disorder	true	Inferred relationship	Some
Poikiloderma with neutropenia	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Poikiloderma with neutropenia	Clinical course	Chronic	true	Inferred relationship	Some	3
Poikiloderma with neutropenia	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Poikiloderma with neutropenia	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Some
Poikiloderma with neutropenia	Is a	Poikiloderma	true	Inferred relationship	Some
Poikiloderma with neutropenia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Poikiloderma with neutropenia	Is a	Chronic disease of immune function	true	Inferred relationship	Some
Poikiloderma with neutropenia	Pathological process	Abnormal immune process	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3717147017	Poikiloderma with neutropenia	en	Synonym	Active	Case insensitive	SNOMED CT core
3717148010	Poikiloderma with neutropenia Clericuzio type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3717150019	Poikiloderma with neutropenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3716696016	A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene.	en	Definition	Active	Case sensitive	SNOMED CT core