Code System Concept

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Code System Concept

Code System Concept Code	1230344000
Code System Concept Name	Microphthalmia, microtia, fetal akinesia syndrome (disorder)
Code System Preferred Concept Name	Microphthalmia, microtia, fetal akinesia 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Superseded By Concept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	09/01/2022
SDO Date Created	06/30/2022
SDO Date Revised	06/30/2022
Description	A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis 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
5069348015	Microphthalmia, microtia, foetal akinesia syndrome	Active	Synonym	false	false
5069349011	Microphthalmia, microtia, fetal akinesia syndrome	Active	Synonym	false	false
5069351010	Thomas Jewett Raines syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Akinesia (finding) {33994004 , SNOMED-CT } Arthrogryposis multiplex congenita (disorder) {205402004 , SNOMED-CT } Common truncus arteriosus (disorder) {61959006 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Microphthalmos of bilateral eyes (disorder) {15987151000119103 , SNOMED-CT } Microtia (disorder) {35045004 , SNOMED-CT } Movement disorder (disorder) {60342002 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , 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,