69093006: Rothmund-Thomson syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome

\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome
\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)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\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\Rothmund-Thomson syndrome

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Rothmund-Thomson syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\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\Rothmund-Thomson syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Rothmund-Thomson syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Rothmund-Thomson syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Rothmund-Thomson syndrome
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Rothmund-Thomson syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Rothmund-Thomson syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\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\Rothmund-Thomson syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\état atrophique de la peau (trouble)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\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\Rothmund-Thomson syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Rothmund-Thomson syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome

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
Rothmund-Thomson syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Rothmund-Thomson syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rothmund-Thomson syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Rothmund-Thomson syndrome	est un(e) (attribut)	affection dégénérative	false	Inferred relationship	Some
Rothmund-Thomson syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Rothmund-Thomson syndrome	est un(e) (attribut)	état atrophique de la peau (trouble)	false	Inferred relationship	Some
Rothmund-Thomson syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Rothmund-Thomson syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	est un(e) (attribut)	Genodermatosis	true	Inferred relationship	Some
Rothmund-Thomson syndrome	est un(e) (attribut)	Multiple malformation syndrome with senile-like appearance	true	Inferred relationship	Some
Rothmund-Thomson syndrome	est un(e) (attribut)	Skin lesion	false	Inferred relationship	Some
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Rothmund-Thomson syndrome	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Rothmund-Thomson syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Rothmund-Thomson syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Rothmund-Thomson syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Rothmund-Thomson syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Rothmund-Thomson syndrome	morphologie associée (attribut)	Poikiloderma	true	Inferred relationship	Some	1
Rothmund-Thomson syndrome	est un(e) (attribut)	Poikiloderma (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rothmund Thomson syndrome type 1 (disorder)	est un(e) (attribut)	True	Rothmund-Thomson syndrome	Inferred relationship	Some
Rothmund Thomson syndrome type 2	est un(e) (attribut)	True	Rothmund-Thomson syndrome	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
114761010	Rothmund-Thomson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
114762015	Poikiloderma congenitale syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233118010	Poikiloderma congenitale	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
457961000241119	syndrome de Rothmund-Thomson (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
809000019	Rothmund-Thomson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
874251000172116	syndrome de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
897691000172111	poïkilodermie de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)