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5619004: Bardet-Biedl syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
10373017 Bardet-Biedl syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
10374011 Laurence-Moon-Biedl syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
794675013 Bardet-Biedl syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1231576017 LMBB - Laurence-Moon-Bardet-Biedl syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
1231577014 Biedl-Bardet syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bardet-Biedl syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a Multisystem disorder K-L false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Bardet-Biedl syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Bardet-Biedl syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Bardet-Biedl syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Bardet-Biedl syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Bardet-Biedl syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Bardet-Biedl syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Bardet-Biedl syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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