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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727873013	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727874019	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727872015	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727873013	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727874019	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384151001000110	FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158201000241114	syndrome de retard de développement, anomalie du système nerveux central et syndactylie dû à des mutations de la fibuline 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158211000241111	syndrome de retard de développement, anomalie du système nerveux central et syndactylie dû à des mutations de FBLN1 (fibuline 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158201000241114	syndrome de retard de développement, anomalie du système nerveux central et syndactylie dû à des mutations de la fibuline 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6158211000241111	syndrome de retard de développement, anomalie du système nerveux central et syndactylie dû à des mutations de FBLN1 (fibuline 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384151001000110	FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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