FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
5097833019 Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome en Synonym Active Case insensitive SNOMED CT core
5097834013 Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome en Synonym Active Case insensitive SNOMED CT core
5097835014 A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia. 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 anemia 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. en Definition Active Case sensitive SNOMED CT core
5097836010 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Mitochondrial cytopathy true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Hydrops fetalis true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Fetal anaemia true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Occurrence Fetal period true Inferred relationship Some 1
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Associated morphology Hydrops true Inferred relationship Some 1
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Occurrence Congenital true Inferred relationship Some 2
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Sideroblastic anaemia true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Fetal acidosis true Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a Lactic acidosis true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start