74911008: 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
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Dyskeratosis congenita
\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
\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

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

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Dyskeratosis congenita
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dyskeratosis congenita
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Dyskeratosis congenita
\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
\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
\Disease\affection d'un système corporel\troubles tégumentaires\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\lésion de tissu mou\Skin lesion\Dyskeratosis congenita
\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
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Dyskeratosis congenita
\Disease\trouble du développement\Developmental hereditary disorder\Dyskeratosis congenita
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita
\Disease\trouble du développement\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dyskeratosis congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
Dyskeratosis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Dyskeratosis congenita	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Dyskeratosis congenita	est un(e) (attribut)	Ectodermal dysplasia	true	Inferred relationship	Some
Dyskeratosis congenita	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Dyskeratosis congenita	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Dyskeratosis congenita	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	est un(e) (attribut)	Genodermatosis	false	Inferred relationship	Some
Dyskeratosis congenita	est un(e) (attribut)	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Dyskeratosis congenita	est un(e) (attribut)	Skin lesion	true	Inferred relationship	Some
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Dyskeratosis congenita	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Dyskeratosis congenita	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Dyskeratosis congenita	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Dyskeratosis congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Dyskeratosis congenita	morphologie associée (attribut)	Dyskeratosis	false	Inferred relationship	Some	2
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Dyskeratosis congenita	morphologie associée (attribut)	Dyskeratosis	true	Inferred relationship	Some	1
Dyskeratosis congenita	survenue (attribut)	congénital	false	Inferred relationship	Some
Dyskeratosis congenita	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked dyskeratosis congenita (disorder)	est un(e) (attribut)	True	Dyskeratosis congenita	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	est un(e) (attribut)	True	Dyskeratosis congenita	Inferred relationship	Some
Autosomal dominant dyskeratosis congenita (disorder)	est un(e) (attribut)	True	Dyskeratosis congenita	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1013201000172112	DC - dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1233801013	DKC - Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233802018	Cole-Engmann-Zinsser syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233803011	Zinsser-Cole-Engmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124414014	Dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124415010	Zinsser-Cole-Engman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124416011	Congenital dyskeratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
125161000077113	dyskératose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
397601000077110	dyskératose congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
815463013	Dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core