1237349008: Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\...
• \Fetal anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Sideroblastic anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Oedema\Disorder characterized by edema\Hydrops fetalis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Fetal finding\Fetal disorder\...
• \Fetal anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Metabolic disorder of fetus\Fetal acidosis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Hydrops fetalis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetal anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Metabolic disorder of fetus\Fetal acidosis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Hydrops fetalis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Fetal anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Disorder characterized by edema\Hydrops fetalis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Metabolic disease\Metabolic disorder of fetus\Fetal acidosis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Fetal acidosis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5097832012	Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5097833019	Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5097834013	Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400269017	A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400270016	A rare mitochondrial disease characterised by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anaemia, 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 surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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