111303009: Sjögren-Larsson-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Sjögren-Larsson syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Sjögren-Larsson syndrome (disorder)
\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 (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)	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
primair syndroom van Sjögren met betrokkenheid van orgaan en/of systeem (aandoening)	Is a	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
primair syndroom van Sjögren met multisysteemziekte	Is a	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
secundair syndroom van Sjögren met betrokkenheid van orgaan en/of systeem	Is a	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some
secundair syndroom van Sjögren met multisysteembetrokkenheid (aandoening)	Is a	False	Sjögren-Larsson syndrome (disorder)	Inferred relationship	Some

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 (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
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
363971000146116	syndroom van Sjögren-Larsson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672311000146110	Sjögren-Larsson-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672321000146117	Sjögren-Larsson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)