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5619004: Bardet-Biedl syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Bardet-Biedl syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Bardet-Biedl syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Bardet-Biedl syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Bardet-Biedl syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bardet-Biedl syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bardet-Biedl syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Bardet-Biedl syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Bardet-Biedl syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Bardet-Biedl syndrome
\Disease\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:

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	Congenital malformation	false	Inferred relationship	Some
Bardet-Biedl syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Bardet-Biedl syndrome	Associated morphology	Developmental anomaly	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
Bardet-Biedl syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Bardet-Biedl syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Bardet-Biedl syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Bardet-Biedl syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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