Sjogren-Larsson syndrome

Preferred Label : Sjogren-Larsson syndrome;

MeSH definition : An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.;

MeSH synonym : fatty aldehyde dehydrogenase deficiency; ichthyosis, spastic neurologic disorder, and oligophrenia; fatty aldehyde dehydrogenase deficiency disease; fatty Alcohol:NAD oxidoreductase deficiency; FALDH deficiency; sjogren larsson syndrome; ichthyosis oligophrenia syndrome; Sjögren-Larsson syndrome; congenital icthyosis mental retardation spasticity syndrome;

CISMeF synonym : Sjogren Larsson; Sjögren-Larsson; Sjogren-Larsson's syndrome;

DeCS synonym : Sj gren-Larsson Syndrome;

MeSH annotation : do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson;

Details

Origin ID

D016111;

UMLS CUI

C0037231;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Sjögren's syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Sjoegren-Larsson syndrome [MedDRA LLT]
- Sjogren Larsson syndrome [Disease (Nov.)]
- Sjogren-Larsson Syndrome [NCIt concept]
- Sjogren-Larsson syndrome [DO Concept]
- Sjogren-Larsson syndrome [MedDRA Preferred Term]
- Sjogren-larsson syndrome [OMIM Phenotype]
- Sjögren-Larsson syndrome [ICD-11 Sub-sub category]
- Sjögren-Larsson syndrome [PASCAL descriptor]
- Sjögren-Larsson syndrome [ORDO Disease]
- Sjögren-Larsson syndrome (disorder) [SNOMED CT concept]
- sjogren-larsson syndrome [SNOMED Notion]
DO Cross reference
- Sjogren-Larsson syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Syndromic ichthyosis associated with ocular features [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Sjögren-Larsson syndrome [ORDO Disease]
Record concept(s)
- Sjogren-Larsson syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Sjogren-Larsson-like syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sjoegren-Larsson syndrome [MedDRA LLT]
- Sjogren Larsson syndrome [Disease (Nov.)]
- Sjogren-Larsson Syndrome [NCIt concept]
- Sjogren-Larsson syndrome [MedDRA Preferred Term]
- Sjogren-Larsson syndrome [DO Concept]
- Sjogren-larsson syndrome [OMIM Phenotype]
- Sjögren-Larsson syndrome [ORDO Disease]
- Sjögren-Larsson syndrome [ICD-11 Sub-sub category]
- Sjögren-Larsson syndrome [PASCAL descriptor]
- Sjögren-Larsson syndrome (disorder) [SNOMED CT concept]
- sjogren-larsson syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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