707273001: autosomaal dominante dyskeratosis congenita (aandoening)

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

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

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant dyskeratosis congenita (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant dyskeratosis congenita (disorder)	Is a	Dyskeratosis congenita	true	Inferred relationship	Some
Autosomal dominant dyskeratosis congenita (disorder)	Associated morphology	Dyskeratosis	false	Inferred relationship	Some	2
Autosomal dominant dyskeratosis congenita (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant dyskeratosis congenita (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Autosomal dominant dyskeratosis congenita (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant dyskeratosis congenita (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Autosomal dominant dyskeratosis congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant dyskeratosis congenita (disorder)	Associated morphology	Dyskeratosis	true	Inferred relationship	Some	1
Autosomal dominant dyskeratosis congenita (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Autosomal dominant dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant dyskeratosis congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant dyskeratosis congenita (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Autosomal dominant dyskeratosis congenita (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Revesz syndrome (disorder)	Is a	True	Autosomal dominant dyskeratosis congenita (disorder)	Inferred relationship	Some

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 (core metadata concept)	SNOMED CT core
3029520015	Autosomal dominant dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6188561000146116	autosomaal dominante dyskeratosis congenita	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188571000146110	autosomaal dominante dyskeratosis congenita (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188591000146114	autosomaal dominante DKC	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188601000146116	autosomaal dominante DC	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6523841000146111	autosomaal dominant Zinsser-Engman-Colesyndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)