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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

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

Expanded Value Set

This concept is not in any reference sets

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