Smith-Lemli-Opitz Syndrome

Preferred Label : Smith-Lemli-Opitz Syndrome;

NCIt definition : A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.;

Alternative definition : NICHD: An autosomal recessive syndrome caused by mutations in the DHCR7 gene, encoding 7-dehydrocholesterol reductase, the enzyme responsible for the first step of cholesterol synthesis. The enzyme deficiency results in reduced production of steroid hormones and underdevelopment of male genitalia due to androgen deficiency. This condition may also be associated with microcephaly, developmental delay, characteristic facial anomalies, and syndactyly.;

Details

Origin ID

C85071;

UMLS CUI

C0175694;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Smith-Lemli-Opitz syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Smith-Lemli-Opitz syndrome [DO Concept]
- Smith-Lemli-Opitz syndrome [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome [ICD-11 More detail]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- 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]
DO Cross reference
- Smith-Lemli-Opitz syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Lemli-Opitz syndrome [DO Concept]
- Smith-Lemli-Opitz syndrome [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome [ICD-11 More detail]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- Smith-Lemli-Opitz syndrome [MedDRA Preferred Term]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DHCR7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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