Code System Concept

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Code System Concept

Code System Concept Code	1237349008
Code System Concept Name	Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
Code System Preferred Concept Name	Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure 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Superseded By Concept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	03/01/2023
SDO Date Created	09/30/2022
SDO Date Revised	09/30/2022
Description	A rare mitochondrial disease characterised by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anaemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anaemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5097833019	Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome	Active	Synonym	false	false
5097834013	Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure 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)

Fetal acidosis (disorder) {240306004 , SNOMED-CT } Fetal anemia (disorder) {462166006 , SNOMED-CT } Hydrops fetalis (disorder) {276508000 , SNOMED-CT } Lactic acidosis (disorder) {91273001 , SNOMED-CT } Mitochondrial cytopathy (disorder) {240096000 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } Sideroblastic anemia (disorder) {41841004 , 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,