smith-lemli-opitz syndrome - CISMeF

CISMeF

chu

Smith-lemli-opitz syndromeSNOMED Notion

Preferred Label : smith-lemli-opitz syndrome;

Détails

Origin ID

D4-00306;

UMLS CUI

C0175694;

Automatic exact mappings (from CISMeF team)
- 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 [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 [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]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
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]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Smith-Lemli-Opitz syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Smith-Lemli-Opitz Syndrome [NCIt concept]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- Smith-Lemli-Opitz syndrome [Disease (Nov.)]
- Smith-Lemli-Opitz syndrome [DO Concept]
- 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 [MeSH Descriptor]

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28/07/2025

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