774070008: Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3727872015	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3727873013	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3727874019	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3727875018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.	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

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