732961003: Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Lambert syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lambert syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Lambert syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lambert syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lambert syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lambert syndrome
• \Disease\Disorder of embryonic structure\Developmental malformation of branchial arch\Lambert syndrome
• \Disease\Congenital disease\Congenital anomaly\Developmental malformation of branchial arch\Lambert syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Lambert syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lambert syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Lambert syndrome
• \Disease\Developmental disorder\Congenital anomaly\Developmental malformation of branchial arch\Lambert syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Lambert syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498458015	Lambert syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498459011	Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498460018	Branchial dysplasia, intellectual disability, inguinal hernia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499928011	A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

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