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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dyskeratosis congenita
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita
\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
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked 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\X-linked dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\X-linked 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\X-linked dyskeratosis congenita
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita

Status: current, Defined. 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 Case sensitive SNOMED CT core
3034749015 X-linked dyskeratosis congenita en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Is a	Dyskeratosis congenita	true	Inferred relationship	Some
X-linked dyskeratosis congenita	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked dyskeratosis congenita	Associated morphology	Dyskeratosis	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita	Finding site	Skin structure	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita	Associated morphology	Dyskeratosis	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita	Finding site	Skin structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hoyeraal-Hreidarsson syndrome	Is a	True	X-linked dyskeratosis congenita	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3034737016	X-linked dyskeratosis congenita (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3034749015	X-linked dyskeratosis congenita	en	Synonym	Active	Case sensitive	SNOMED CT core