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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\...

\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

\Central nervous system finding\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\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Disorder of body system\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\Disorder of body system\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\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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 malformation\Congenital malformation syndrome (disorder)\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 malformation\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 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

4224121000052112 syndrom med fibulin 1-relaterad försenad utveckling, anomali i centrala nervsystemet och syndaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
4224121000052112	syndrom med fibulin 1-relaterad försenad utveckling, anomali i centrala nervsystemet och syndaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)