111303009: syndrome de Sjögren-Larsson (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (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)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (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\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (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\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (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\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Sjögren-Larsson syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (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\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

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
Sjögren-Larsson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	est un(e) (attribut)	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary Sjögren's syndrome with organ/system involvement (disorder)	est un(e) (attribut)	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
syndrome de Sjögren primaire avec atteinte multisystémique	est un(e) (attribut)	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
Secondary Sjögren's syndrome with organ/system involvement (disorder)	est un(e) (attribut)	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
syndrome de Sjögren secondaire avec atteinte multisystémique	est un(e) (attribut)	False	Sjögren-Larsson syndrome (disorder)	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
178535015	Sjogren-Larsson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2638095016	Sjögren-Larsson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2642195010	Sjögren-Larsson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
360837019	Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
360838012	FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
496551000241119	syndrome de Sjögren-Larsson (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
910111000172119	syndrome de Sjögren-Larsson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
995181000172115	déficit d'oxydoréduction des alcools d'acides gras	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)