Code System Concept

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Code System Concept

Code System Concept Code	774070008
Code System Concept Name	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
Code System Preferred Concept Name	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3727872015	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Active	Synonym	false	false
3727874019	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of central nervous system (disorder) {128124001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , SNOMED-CT } Syndactyly (disorder) {373413006 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,