74911008: Dyskeratosis congenita (disorder)

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 (disorder)\Skin lesion\Dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyskeratosis congenita	Is a	Genodermatosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Is a	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Associated morphology	Dyskeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dyskeratosis congenita	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Associated morphology	Dyskeratosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyskeratosis congenita	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked dyskeratosis congenita (disorder)	Is a	True	Dyskeratosis congenita	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive dyskeratosis congenita	Is a	True	Dyskeratosis congenita	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant dyskeratosis congenita (disorder)	Is a	True	Dyskeratosis congenita	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
124414014	Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124415010	Zinsser-Cole-Engman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124416011	Congenital dyskeratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
815463013	Dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233801013	DKC - Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233802018	Cole-Engmann-Zinsser syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233803011	Zinsser-Cole-Engmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124414014	Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
124414014	Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124415010	Zinsser-Cole-Engman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124416011	Congenital dyskeratosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
124416011	Congenital dyskeratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
815463013	Dyskeratosis congenita (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
815463013	Dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233801013	DKC - Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233801013	DKC - Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233802018	Cole-Engmann-Zinsser syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233803011	Zinsser-Cole-Engmann syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233803011	Zinsser-Cole-Engmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420691001000117	Dyskeratosis congenita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
125161000077113	dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013201000172112	DC - dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
125161000077113	dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013201000172112	DC - dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420691001000117	Dyskeratosis congenita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module