707273001: Autosomal dominant dyskeratosis congenita (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3029387019 Autosomal dominant dyskeratosis congenita (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3029520015 Autosomal dominant dyskeratosis congenita en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant dyskeratosis congenita	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant dyskeratosis congenita	Is a	Dyskeratosis congenita	true	Inferred relationship	Existential restriction modifier
Autosomal dominant dyskeratosis congenita	Associated morphology	Dyskeratosis	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant dyskeratosis congenita	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant dyskeratosis congenita	Associated morphology	Dyskeratosis	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant dyskeratosis congenita	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant dyskeratosis congenita	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant dyskeratosis congenita	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Revesz syndrome	Is a	True	Autosomal dominant dyskeratosis congenita	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3029387019	Autosomal dominant dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3029520015	Autosomal dominant dyskeratosis congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module