707272006: Autosomal recessive 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\Skin lesion\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 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 congenita\Autosomal recessive dyskeratosis congenita
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\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 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\Fetal and/or neonatal disorder of integument\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)\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 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 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\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal recessive dyskeratosis congenita
\Disease\Fetal and/or neonatal disorder\Congenital disease\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 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\Fetal and/or neonatal disorder of integument\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)\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 congenita\Autosomal recessive dyskeratosis congenita
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\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 congenita\Autosomal recessive dyskeratosis congenita
\Disease\Developmental disorder\Developmental hereditary disorder\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:

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

5756021000241115 syndrome de Zinsser-Engman-Cole autosomique récessif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5756031000241118 dyskératose congénitale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie du développement	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

Back to Start

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
5756021000241115	syndrome de Zinsser-Engman-Cole autosomique récessif	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5756031000241118	dyskératose congénitale autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module