43929004: Smith-Lemli-Opitz syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\...

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

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

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\syndrome de Smith-Lemli-Opitz

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\syndrome de Smith-Lemli-Opitz

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

1016991000172118 syndrome de Smith-Lemli-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

429531000241112 syndrome de Smith-Lemli-Opitz (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

493717019 7-Dehydrocholesterol reductase deficiency en Synonym (core metadata concept) 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

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

988151000172118 déficit en 7-déhydrocholestérol réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de Smith-Lemli-Opitz	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome de Smith-Lemli-Opitz	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Smith-Lemli-Opitz	est un(e) (attribut)	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Some
syndrome de Smith-Lemli-Opitz	est un(e) (attribut)	Disorder of cholesterol synthesis	true	Inferred relationship	Some
syndrome de Smith-Lemli-Opitz	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome de Smith-Lemli-Opitz	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Smith-Lemli-Opitz	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
syndrome de Smith-Lemli-Opitz	survenue (attribut)	congénital	false	Inferred relationship	Some
syndrome de Smith-Lemli-Opitz	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)