Smith-Lemli-Opitz syndrome

Preferred Label : Smith-Lemli-Opitz syndrome;

ICD-11 definition : Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems (multiple autistic traits, hyperactivity, self-injurious behavior and sleep disturbances).;

ICD-11 synonym : 7-dehydrocholesterol reductase deficiency;

Details

Origin ID

1231469858;

UMLS CUI

C0175694;

Automatic exact mappings (from CISMeF team)
- Smith-Lemli-Opitz syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Smith-Lemli-Opitz Syndrome [NCIt concept]
- Smith-Lemli-Opitz syndrome [DO Concept]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- Smith-Lemli-Opitz syndrome [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome (disorder) [SNOMED CT concept]
- Smith-lemli-opitz syndrome [OMIM Phenotype]
- smith-lemli-opitz syndrome [SNOMED Notion]
- smith-lemli-opitz syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- 7-Dehydrocholesterol reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Lemli-Opitz Syndrome [NCIt concept]
- Smith-Lemli-Opitz syndrome [DO Concept]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- Smith-Lemli-Opitz syndrome [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- Smith-Lemli-Opitz syndrome [MedDRA Preferred Term]
- Smith-Lemli-Opitz syndrome (disorder) [SNOMED CT concept]
- Smith-lemli-opitz syndrome [OMIM Phenotype]
- smith-lemli-opitz syndrome [MeSH Descriptor]
- smith-lemli-opitz syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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