5619004: Bardet-Biedl syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Bardet-Biedl syndrome

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

\Mental disorder\Developmental mental disorder\Intellectual disability\Bardet-Biedl syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Bardet-Biedl syndrome

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Bardet-Biedl syndrome
\Developmental disorder\Developmental hereditary disorder\Bardet-Biedl syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Bardet-Biedl 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

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
794675013 Bardet-Biedl syndrome (disorder) en Fully specified name 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
2889221000052111 Bardet-Biedls syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bardet-Biedl syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	mental retardation	false	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	Multisystem disorder K-L	false	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Bardet-Biedl syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Bardet-Biedl syndrome	Finding site	Brain structure	false	Inferred relationship	Some
Bardet-Biedl syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Bardet-Biedl syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Bardet-Biedl syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Bardet-Biedl syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Bardet-Biedl syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Bardet-Biedl syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Bardet-Biedl syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets