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276536005: Respiratory insufficiency syndrome of newborn (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
412709013 Respiratory insufficiency syndrome of newborn en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
669464013 Respiratory insufficiency syndrome of newborn (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Respiratory insufficiency syndrome of newborn Is a Neonatal respiratory failure false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Finding site Fetal structure false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Occurrence Fetal period false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Occurrence Neonatal true Inferred relationship Some 1
Respiratory insufficiency syndrome of newborn Finding site Structure of respiratory system subdivision (body structure) false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Occurrence Perinatal state false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Occurrence Perinatal period false Inferred relationship Some
Respiratory insufficiency syndrome of newborn Finding site Structure of respiratory system (body structure) false Inferred relationship Some 2
Respiratory insufficiency syndrome of newborn Finding site Structure of respiratory system (body structure) true Inferred relationship Some 1
Respiratory insufficiency syndrome of newborn Is a Neonatal respiratory system disorder true Inferred relationship Some
Respiratory insufficiency syndrome of newborn Is a Respiratory insufficiency (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Neonatal respiratory failure Is a True Respiratory insufficiency syndrome of newborn Inferred relationship Some
Chronic pulmonary insufficiency of prematurity Is a True Respiratory insufficiency syndrome of newborn Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. Is a True Respiratory insufficiency syndrome of newborn Inferred relationship Some

This concept is not in any reference sets

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