708536001: X-linked dyskeratosis congenita (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\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\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Genetic disease\maladie héréditaire\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\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\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 soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\X-linked dyskeratosis congenita (disorder)
\Disease\trouble du développement\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	est un(e) (attribut)	Dyskeratosis congenita	true	Inferred relationship	Some
X-linked dyskeratosis congenita (disorder)	est un(e) (attribut)	X-linked hereditary disease	true	Inferred relationship	Some
X-linked dyskeratosis congenita (disorder)	morphologie associée (attribut)	Dyskeratosis	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
X-linked dyskeratosis congenita (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
X-linked dyskeratosis congenita (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	morphologie associée (attribut)	Dyskeratosis	true	Inferred relationship	Some	1
X-linked dyskeratosis congenita (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hoyeraal-Hreidarsson syndrome (disorder)	est un(e) (attribut)	True	X-linked dyskeratosis congenita (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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