707272006: autosomaal recessieve 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 recessive dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis (disorder)\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis (disorder)\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\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 recessive dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis (disorder)\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita

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

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 recessive dyskeratosis congenita	Is a	Dyskeratosis congenita	true	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	Associated morphology	Dyskeratosis	false	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Some	3
Autosomal recessive dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	Associated morphology	Dyskeratosis	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	Finding site	Skin structure	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Autosomal recessive dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
3029600013	Autosomal recessive dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029603010	Autosomal recessive dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6188511000146118	autosomaal recessieve dyskeratosis congenita	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188521000146111	autosomaal recessieve dyskeratosis congenita (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188551000146119	autosomaal recessief syndroom van Zinsser-Cole-Engman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6215531000146119	autosomaal recessief Zinsser-Cole-Engman-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)