708536001: X-linked 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\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 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 congenita\X-linked dyskeratosis congenita (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\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 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\Fetal and/or neonatal disorder of integument\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)\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 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 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\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\X-linked dyskeratosis congenita (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\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 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\Fetal and/or neonatal disorder of integument\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)\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 congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\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 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 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:

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

7576591000241114 dyskératose congénitale liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie du développement	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
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	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
7576591000241114	dyskératose congénitale liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module