1304113005: Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Disease\Genetic disease\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5309331019	Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5309332014	Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5309333016	A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5309331019	Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5309332014	Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5309333016	A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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