Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Neonatal disorder caused by antineoplastic agent transmitted via breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by hypoglycemic agent via breast milk (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by endocrine agent via breast milk (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by anticonvulsant via breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by anticoagulant in breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by uterine depressor via breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by maternal analgesia transmitted via breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by maternal tobacco consumption (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal disorder caused by maternal antihypertensive medication via breast milk |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotising enterocolitis of newborn, stage 1A |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotising enterocolitis of newborn, stage 1A |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Necrotizing enterocolitis of newborn stage 1B Bell's classification (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotizing enterocolitis of newborn stage 1B Bell's classification (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Necrotising enterocolitis of newborn, Stage 2A |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotising enterocolitis of newborn, Stage 2A |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Necrotising enterocolitis of newborn, Stage 2B |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotising enterocolitis of newborn, Stage 2B |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Necrotizing enterocolitis of newborn stage 3A Bell's classification (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotizing enterocolitis of newborn stage 3A Bell's classification (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Necrotising enterocolitis of newborn, Stage 3B |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Necrotising enterocolitis of newborn, Stage 3B |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
A rare secondary neonatal autoimmune disease characterized by neonatal onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Term infant 38 weeks |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Term infant 37 weeks (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Term infant 39 weeks (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Neonatal jaundice due to delayed conjugation from breast milk inhibitor |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal tuberculosis (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal transient metabolic disturbance (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Risk factor - been on SCBU |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Acute aseptic myocarditis of the newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Non-traumatic intraventricular hemorrhage grade 1 during neonatal period (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal infection of skin caused by Candida |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Non-traumatic intraventricular haemorrhage grade 2 during neonatal period |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Non-traumatic intraventricular hemorrhage grade 3 during neonatal period (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice caused by substance transmitted via breast milk (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice caused by substance transmitted via breast milk (finding) |
Occurrence |
False |
Neonatal |
Inferred relationship |
Some |
2 |
Repair of neonatal diaphragmatic hernia |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice due to Gilbert's syndrome (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Snuffles in newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of predominant automatisms, defined as more or less coordinated motor activity with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
An electrographic change defined by a sudden repetitive, evolving, stereotyped waveform with a beginning and end without clinical correlate that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal predominantly non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal predominantly motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal motor, non-motor or electrographic-only phenomenon occurring in sequence within a single seizure. No predominant feature can be determined instead the seizure presents with a variety of clinical signs. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of brief (less than 100 milliseconds) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal) with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of sustained increase in muscle contraction lasting a few seconds to minutes, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of regularly repetitive jerking of the same muscle groups which is either symmetric or asymmetric with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor (sweating), vasomotor, or thermoregulatory functions with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A sudden paroxysm of a predominant arrest (pause) of activities, freezing and immobilization with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Seizures complicating intracranial hemorrhage in the newborn (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Neonatal jaundice due to congenital obstruction of bile duct |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice due to swallowed maternal blood (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice due to bruising (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal jaundice due to inspissated bile syndrome |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Circumcision by clamp procedure on newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Phototherapy of newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal conjunctivitis of right eye caused by Neisseria gonorrhoeae (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal conjunctivitis of left eye caused by Neisseria gonorrhoeae (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal conjunctivitis of bilateral eyes caused by Neisseria gonorrhoeae (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal conjunctivitis of bilateral eyes caused by Neisseria gonorrhoeae (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Newborn slipped umbilical ligature |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Delayed separation of umbilical cord (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal botulism (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal aspiration pneumonitis |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Retinopathy of prematurity stage 5 of left eye (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Retinopathy of prematurity stage 5 of right eye (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Retinopathy of prematurity stage 5 of bilateral eyes (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Retinopathy of prematurity stage 5 of bilateral eyes (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Glucose-galactose malabsorption (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal innocent cardiac murmur (finding) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
3 |
Rickets due to prematurity |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
Osteopenia of prematurity |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Rumination in newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
3 |
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. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
4 |
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. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
5 |
Abnormal cerebral sign in newborn |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal obstructive sleep apnea (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal mixed sleep apnea (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Neonatal central sleep apnea (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Transient neonatal disorder of endocrine system (disorder) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Newborn activity of daily living needs assessment |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Assessment of newborn (procedure) |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Newborn continuous physical assessment |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |
Newborn admission assessment |
Occurrence |
True |
Neonatal |
Inferred relationship |
Some |
1 |