43929004: Smith-Lemli-Opitz syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Smith-Lemli-Opitz syndrome

\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\...

\Disorder of lipid metabolism\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

\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Smith-Lemli-Opitz syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

73253014 Smith-Lemli-Opitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493717019 7-Dehydrocholesterol reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

780998012 Smith-Lemli-Opitz syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

73253014 Smith-Lemli-Opitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493717019 7-Dehydrocholesterol reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

780998012 Smith-Lemli-Opitz syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

780998012 Smith-Lemli-Opitz syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3430531001000118 Smith-Lemli-Opitz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988151000172118 déficit en 7-déhydrocholestérol réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1016991000172118 syndrome de Smith-Lemli-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988151000172118 déficit en 7-déhydrocholestérol réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1016991000172118 syndrome de Smith-Lemli-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3430531001000118 Smith-Lemli-Opitz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Smith-Lemli-Opitz syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome	Is a	Disorder of cholesterol synthesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Smith-Lemli-Opitz syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Smith-Lemli-Opitz syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Smith-Lemli-Opitz syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets