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5619004: Bardet-Biedl-syndroom (aandoening)

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	mentale retardatie	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	gebrekkige ontwikkeling (afwijkende morfologie)	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

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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
1416141000146114	syndroom van Bardet-Biedl	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10661321000146116	Bardet-Biedl-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10661331000146119	Bardet-Biedl-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13079941000146111	Syndroom met als kenmerken aangeboren vetzucht, hand- en voetafwijkingen, netvliesafwijkingen, nierafwijkingen; soms onderontwikkelde geslachtsorganen; kan leiden tot verstandelijke beperking.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)