74911008: 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
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

124414014 Dyskeratosis congenita en Synonym Active Entire term case insensitive SNOMED CT core module
124415010 Zinsser-Cole-Engman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
124416011 Congenital dyskeratosis en Synonym Active Entire term case insensitive SNOMED CT core module
815463013 Dyskeratosis congenita (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1233801013 DKC - Dyskeratosis congenita en Synonym Active Entire term case sensitive SNOMED CT core module
1233802018 Cole-Engmann-Zinsser syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
1233803011 Zinsser-Cole-Engmann syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2108131000000116 Cole-Engman-Zinsser syndrome en Synonym Active Only initial character case insensitive SNOMED CT United Kingdom Edition module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyskeratosis congenita	Is a	Genodermatosis	false	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Is a	Multisystem disorder C-D	false	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Associated morphology	Dyskeratosis	true	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Dyskeratosis congenita	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Associated morphology	Dyskeratosis	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dyskeratosis congenita	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Dyskeratosis congenita	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked dyskeratosis congenita	Is a	True	Dyskeratosis congenita	Inferred relationship	Existential restriction modifier
Autosomal recessive dyskeratosis congenita	Is a	True	Dyskeratosis congenita	Inferred relationship	Existential restriction modifier
Autosomal dominant dyskeratosis congenita	Is a	True	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
124414014	Dyskeratosis congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
124415010	Zinsser-Cole-Engman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
124416011	Congenital dyskeratosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
815463013	Dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1233801013	DKC - Dyskeratosis congenita	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1233802018	Cole-Engmann-Zinsser syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1233803011	Zinsser-Cole-Engmann syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2108131000000116	Cole-Engman-Zinsser syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT United Kingdom Edition module