708536001: X-gebonden 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\X-linked dyskeratosis congenita (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis (disorder)\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked 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\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked 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\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked 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\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked 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\X-linked 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\X-linked 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\X-linked 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\X-linked 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\X-linked 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\X-linked 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\X-linked 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\X-linked dyskeratosis congenita (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked 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
X-linked dyskeratosis congenita (disorder)	Is a	Dyskeratosis congenita	true	Inferred relationship	Some
X-linked dyskeratosis congenita (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked dyskeratosis congenita (disorder)	Associated morphology	Dyskeratosis	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	Associated morphology	Dyskeratosis	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hoyeraal-Hreidarsson syndrome (disorder)	Is a	True	X-linked 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
3034737016	X-linked dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3034749015	X-linked dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6169211000146113	X-gebonden dyskeratosis congenita	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169221000146115	X-gebonden dyskeratosis congenita (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169231000146118	X-gebonden DC	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169241000146114	X-gebonden DKC	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169311000146116	X-gebonden syndroom van Zinsser-Cole-Engman	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)