smith-lemli-opitz syndrome

Preferred Label : smith-lemli-opitz syndrome;

MeSH definition : An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.;

MeSH synonym : rsh-slo syndrome; rsh slo syndrome; rsh-slo syndromes; smith lemli opitz syndrome; polydactyly, sex reversal, renal hypoplasia, and unilobar lung; hyperotosis corticalis generalisata familiaris; SLO syndrome; SLO syndromes; syndrome, SLO; syndromes, SLO; RSH syndrome; RSH syndromes; syndrome, RSH; syndromes, RSH;

CISMeF synonym : Smith-Lemli-Optiz; Smith Lemli Optiz; smith-lemli-opitz's syndrome;

MeSH hyponym : Smith-Lemli-Opitz syndrome, type I; Smith-Lemli-Opitz syndrome, type II; Smith Lemli Opitz Syndrome, Type II; Smith-Lemli-Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type 2; Rutledge Lethal Multiple Congenital Anomaly Syndrome; Lethal Acrodysgenital Syndrome; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Lethal Acrodysgenital Syndromes; Syndrome, Lethal Acrodysgenital; Rutledge Friedman Harrod Syndrome; Smith Lemli Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type 1; Smith Lemli Opitz syndrome, type 1;

Related MeSH term : 7 dehydrocholesterol reductase deficiency; 7-Dehydrocholesterol reductase deficiency; 7-Dehydrocholesterol Reductase Deficiencies; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol;

Wikipedia link : https://en.wikipedia.org/wiki/Smith-lemli-opitz syndrome;

Details

Origin ID

D019082;

UMLS CUI

C0175694;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [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)
- 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)]
- KCNMA1 wt Allele [NCIt concept]
- Smith-Lemli-Opitz dwarfism [PASCAL descriptor]
- 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 [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome [ICD-11 More detail]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- Smith-Lemli-Opitz syndrome (disorder) [SNOMED CT concept]
- Smith-lemli-opitz syndrome [OMIM Phenotype]
- smith-lemli-opitz syndrome [SNOMED Notion]
DO Cross reference
- Smith-Lemli-Opitz syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- 46,XY disorder of sex development [ORDO Disease]
- 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect [ORDO Disease]
- Craniofacial anomaly with cataract [ORDO Disease]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy [ORDO Disease]
- Sterol biosynthesis disorder [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
- Syndromic neurometabolic disease with non-X-linked intellectual disability [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
ORDO relation(s)
- Smith-Lemli-Opitz syndrome [ORDO Disease]
Record concept(s)
- 7-Dehydrocholesterol reductase deficiency [MeSH concept]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- Smith-Lemli-Opitz syndrome, type I [MeSH concept]
- Smith-Lemli-Opitz syndrome, type II [MeSH concept]
Related MeSH Supplementary Concept(s)
- cerebellar vermis aplasia with associated features suggesting Smith-Lemli-Opitz syndrome and meckel syndrome [MeSH Supplementary 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 [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 (disorder) [SNOMED CT concept]
- Smith-lemli-opitz syndrome [OMIM Phenotype]
- smith-lemli-opitz syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

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