111303009: Sjögren-Larsson syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sjögren-Larsson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

178535015 Sjogren-Larsson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

360837019 Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

360838012 FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

2638095016 Sjögren-Larsson syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2642195010 Sjögren-Larsson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sjögren-Larsson syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Sjögren-Larsson syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Sjögren-Larsson syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary Sjögren's syndrome with organ/system involvement	Is a	False	Sjögren-Larsson syndrome	Inferred relationship	Existential restriction modifier
Primary Sjögren's syndrome with multisystem involvement	Is a	False	Sjögren-Larsson syndrome	Inferred relationship	Existential restriction modifier
Secondary Sjögren's syndrome with organ/system involvement	Is a	False	Sjögren-Larsson syndrome	Inferred relationship	Existential restriction modifier
Secondary Sjögren's syndrome with multisystem involvement	Is a	False	Sjögren-Larsson syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178535015	Sjogren-Larsson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
360837019	Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
360838012	FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2638095016	Sjögren-Larsson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2642195010	Sjögren-Larsson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module