43929004: Smith-Lemli-Opitz syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\...
• \Lipid metabolism disorder\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Smith-Lemli-Opitz syndrome
• \Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Smith-Lemli-Opitz syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Smith-Lemli-Opitz syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Smith-Lemli-Opitz syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
493717019	7-Dehydrocholesterol reductase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
73253014	Smith-Lemli-Opitz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
780998012	Smith-Lemli-Opitz syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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