43929004: syndroom van Smith-Lemli-Opitz (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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)\Disorder of cholesterol synthesis\Smith-Lemli-Opitz syndrome

\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Smith-Lemli-Opitz syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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

55461000146111 7-dehydrocholesterolreductasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

55471000146117 syndroom van Smith-Lemli-Opitz nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

933021000146116 syndroom van Smith-Lemli-Opitz (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10300751000146113 Erfelijke stofwisselingsziekte waarbij het lichaam niet of nauwelijks cholesterol aanmaakt; dit veroorzaakt motorische en verstandelijke beperkingen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Smith-Lemli-Opitz syndrome	Is a	Disorder of cholesterol synthesis	true	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Finding site	Body system structure	false	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Smith-Lemli-Opitz syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Smith-Lemli-Opitz syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Smith-Lemli-Opitz syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)