1003381002: Onycho-tricho-dysplasia neutropenia syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

\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)\Onycho-tricho-dysplasia neutropenia syndrome

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

\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\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome

\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\Onycho-tricho-dysplasia neutropenia syndrome
\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome

\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\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\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Onycho-tricho-dysplasia neutropenia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4165148014 Onycho-tricho-dysplasia neutropenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4165149018 Onycho-tricho-dysplasia neutropenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168119019 Trichothiodystrophy type G en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Onycho-tricho-dysplasia neutropenia syndrome	Is a	Trichothiodystrophy (disorder)	true	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Onycho-tricho-dysplasia neutropenia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Onycho-tricho-dysplasia neutropenia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Onycho-tricho-dysplasia neutropenia syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Onycho-tricho-dysplasia neutropenia syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Associated morphology	Defect	false	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Onycho-tricho-dysplasia neutropenia syndrome	Interprets	Neutrophil count	true	Inferred relationship	Some	3
Onycho-tricho-dysplasia neutropenia syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Onycho-tricho-dysplasia neutropenia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets