Code System Concept

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Code System Concept

Code System Concept Code	763346009
Code System Concept Name	Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder)
Code System Preferred Concept Name	Fetal akinesia, cerebral and retinal hemorrhage 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3638632019	Foetal akinesia, cerebral and retinal hemorrhage syndrome	Active	Synonym	false	false
3638633012	Fetal akinesia, cerebral and retinal haemorrhage syndrome	Active	Synonym	false	false
3638634018	Lethal congenital contracture syndrome type 5	Active	Synonym	false	false
3638636016	Fetal akinesia, cerebral and retinal hemorrhage syndrome	Active	Synonym	false	false
3780929019	Foetal akinesia, cerebral and retinal haemorrhage 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)

Akinesia (finding) {33994004 , SNOMED-CT } Arthrogryposis (disorder) {111246005 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of skeletal muscle (disorder) {89886004 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Inherited arthrogryposis (disorder) {28204005 , 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,