Sjögren-Larsson syndrome 111303009

SNOMED CT code

SNOMED code

111303009

name

Sjögren-Larsson syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Sjögren-Larsson syndrome (disorder)

synonyms

Sjogren-Larsson syndrome
Sjögren-Larsson syndrome
Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency
FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperkeratosis 26996000

Finding site

Entire skin 181469002

Occurrence

Congenital 255399007

attributes - group2

Interprets

Keratinization 44138005

Has interpretation

Abnormal 263654008

parents

Disorder of lipid storage and metabolism 238017009
Cutaneous syndrome with ichthyosis 239057002
Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Disorder of lipid storage and metabolism 238017009
Sjögren-Larsson syndrome 111303009

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Skin finding 106076001
Rough skin 816995008
Congenital ichthyosis of skin 13059002
Cutaneous syndrome with ichthyosis 239057002
Sjögren-Larsson syndrome 111303009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006
Sjögren-Larsson syndrome 111303009

ancestors

sorted most to least specific

Disorder of lipid storage and metabolism 238017009
Cutaneous syndrome with ichthyosis 239057002
Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Congenital ichthyosis of skin 13059002
Multiple system malformation syndrome 82354003
Metabolic disease 75934005
Genodermatosis 239001006
Congenital malformation syndrome 400038003
Inherited disorder of keratinization 254214009
Developmental hereditary disorder 363070008
Ichthyosis 782957005
Rough skin 816995008
Congenital anomaly of skin 199879009
Disorder of keratinization 277905003
Keratoderma 707209001
Hereditary disorder of the integument 363185004
Congenital anomaly of integument 38164009
Keratosis 254666005
Disorder of skin 95320005
Abnormal keratinization 69707008
Hereditary disorder by system 363137000
Congenital malformation 276654001
Hereditary disease 32895009
Skin finding 106076001
Disorder of skin and/or subcutaneous tissue 80659006
Functional finding 118228005
Disorder of integument 128598002
Developmental disorder 5294002
Genetic disease 782964007
Congenital disease 66091009
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of lipoprotein AND/OR lipid metabolism 48286001

Disorder of lipid storage and metabolism 238017009

Sjögren-Larsson syndrome 111303009

SNOMED CT code