5619004: Bardet-Biedl syndrome (disorder)

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

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\syndrome de Bardet-Biedl

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de Bardet-Biedl

\trouble mental\troubles mentaux du développement\Intellectual disability\syndrome de Bardet-Biedl

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Bardet-Biedl

\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\syndrome de Bardet-Biedl
\trouble du développement\Developmental hereditary disorder\syndrome de Bardet-Biedl
\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Bardet-Biedl

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

1021051000172111 syndrome de Bardet-Biedl fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

10373017 Bardet-Biedl syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

10374011 Laurence-Moon-Biedl syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1231576017 LMBB - Laurence-Moon-Bardet-Biedl syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1231577014 Biedl-Bardet syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

387761000241117 syndrome de Bardet-Biedl (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

794675013 Bardet-Biedl syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

959311000172116 BBS - Bardet-Biedl syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (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 Bardet-Biedl	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Bardet-Biedl	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome de Bardet-Biedl	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
syndrome de Bardet-Biedl	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Multisystem disorder K-L (navigational concept)	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
syndrome de Bardet-Biedl	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Bardet-Biedl	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
syndrome de Bardet-Biedl	survenue (attribut)	congénital	false	Inferred relationship	Some
syndrome de Bardet-Biedl	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some
syndrome de Bardet-Biedl	est un(e) (attribut)	Intellectual disability	true	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)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)