Sjogren-Larsson Syndrome

Preferred Label : Sjogren-Larsson Syndrome;

NCIt synonyms : Fatty Aldehyde Dehydrogenase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability.;

Details

Origin ID

C85070;

UMLS CUI

C0037231;

Currated CISMeF NLP mapping
- Sjoegren-Larsson syndrome [MedDRA LLT]
- Sjogren Larsson syndrome [Disease (Nov.)]
- Sjogren-Larsson syndrome [DO Concept]
- Sjogren-Larsson syndrome [MedDRA Preferred Term]
- Sjogren-Larsson syndrome [MeSH Descriptor]
- Sjogren-Larsson syndrome [MeSH concept]
- 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]
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 [MedDRA Preferred Term]
- Sjogren-Larsson syndrome [DO Concept]
- Sjogren-Larsson syndrome [MeSH concept]
- Sjogren-Larsson syndrome [MeSH Descriptor]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ALDH3A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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