3658006: Infancy (qualifier value)

SNOMED CT Concept\Qualifier value (qualifier value)\...

\Precondition value (qualifier value)\Periods of life\Any period of life commencing after birth, but before death.\Infancy

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Any period of life commencing after birth, but before death.\Infancy

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Any period of life commencing after birth, but before death.\Infancy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infancy	Is a	Periods of life	false	Inferred relationship	Some
Infancy	Is a	Age AND/OR growth period	false	Inferred relationship	Some
Infancy	Is a	Any period of life commencing after birth, but before death.	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
STING-associated vasculopathy with onset in infancy (disorder)	Occurrence	False	Infancy	Inferred relationship	Some	2
Hakuri	Occurrence	False	Infancy	Inferred relationship	Some	1
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	Occurrence	False	Infancy	Inferred relationship	Some	1
Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.	Occurrence	True	Infancy	Inferred relationship	Some	1
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	Occurrence	True	Infancy	Inferred relationship	Some	4
Entire life	Is a	False	Infancy	Inferred relationship	Some
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.	Occurrence	True	Infancy	Inferred relationship	Some	1
Behr syndrome	Occurrence	False	Infancy	Inferred relationship	Some	1
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	Occurrence	True	Infancy	Inferred relationship	Some	2
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	Occurrence	False	Infancy	Inferred relationship	Some
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.	Occurrence	False	Infancy	Inferred relationship	Some
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.	Occurrence	False	Infancy	Inferred relationship	Some	3
Infantile viral gastroenteritis	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile viral gastroenteritis	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	Occurrence	False	Infancy	Inferred relationship	Some	2
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	False	Infancy	Inferred relationship	Some	1
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	Occurrence	True	Infancy	Inferred relationship	Some	1
Infant gastrointestinal regurgitation (finding)	Occurrence	True	Infancy	Inferred relationship	Some	2
Infant dyschezia (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	Occurrence	False	Infancy	Inferred relationship	Some	3
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	Occurrence	False	Infancy	Inferred relationship	Some	4
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.	Occurrence	True	Infancy	Inferred relationship	Some	4
Whiplash shaken infant syndrome (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	Occurrence	True	Infancy	Inferred relationship	Some	5
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Occurrence	False	Infancy	Inferred relationship	Some
Erythroderma in infancy	Occurrence	False	Infancy	Inferred relationship	Some	2
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.	Occurrence	True	Infancy	Inferred relationship	Some	1
Idiopathic hypercalcemia of infancy	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile hypercalcemia	Occurrence	True	Infancy	Inferred relationship	Some	2
Idiopathic infantile hypercalcaemia - mild form	Occurrence	True	Infancy	Inferred relationship	Some	2
Severe idiopathic hypercalcemia of infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	2
Food protein-induced colitis in infant	Occurrence	True	Infancy	Inferred relationship	Some	2
Food protein-induced proctitis in infant	Occurrence	True	Infancy	Inferred relationship	Some	3
Transient infantile hyperthyrotropinemia (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	3
Underweight in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Nutritional wasting in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Acute malnutrition in infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Nutritional stunting in infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Occurrence	False	Infancy	Inferred relationship	Some
Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.	Occurrence	True	Infancy	Inferred relationship	Some	1
Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation.	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile stiff skin syndrome (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	Occurrence	True	Infancy	Inferred relationship	Some	2
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	Occurrence	True	Infancy	Inferred relationship	Some	3
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	Occurrence	True	Infancy	Inferred relationship	Some	1
Constantly crying infant (finding)	Occurrence	True	Infancy	Inferred relationship	Some	2
Melanotic neuroectodermal tumor of infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	Occurrence	True	Infancy	Inferred relationship	Some	1
idrocele infantile	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile gastroenteritis	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile gastroenteritis	Occurrence	True	Infancy	Inferred relationship	Some	2
Nonbacterial gastroenteritis of infant	Occurrence	True	Infancy	Inferred relationship	Some	2
Nonbacterial gastroenteritis of infant	Occurrence	True	Infancy	Inferred relationship	Some	1
Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	Occurrence	True	Infancy	Inferred relationship	Some	1
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	Occurrence	True	Infancy	Inferred relationship	Some	1
Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.	Occurrence	True	Infancy	Inferred relationship	Some	2
LAMB2-related infantile-onset nephrotic syndrome	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile autism (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Active infantile autism	Occurrence	True	Infancy	Inferred relationship	Some	1
Residual infantile autism	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Occurrence	True	Infancy	Inferred relationship	Some	3
A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.	Occurrence	True	Infancy	Inferred relationship	Some	1
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	Occurrence	True	Infancy	Inferred relationship	Some	2
Chronic infantile eczema	Occurrence	True	Infancy	Inferred relationship	Some	1
Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.	Occurrence	True	Infancy	Inferred relationship	Some	1
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.	Occurrence	True	Infancy	Inferred relationship	Some	2
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.	Occurrence	True	Infancy	Inferred relationship	Some	3
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.	Occurrence	True	Infancy	Inferred relationship	Some	3
A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile cataract (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Cutaneous mastocytosis, infantile form (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.	Occurrence	False	Infancy	Inferred relationship	Some	1
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Occurrence	True	Infancy	Inferred relationship	Some	4
Acute infantile eczema	Occurrence	True	Infancy	Inferred relationship	Some	1
High risk infant (finding)	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile acne	Occurrence	True	Infancy	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	True	Infancy	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	True	Infancy	Inferred relationship	Some	2
Michelin-tyre baby	Occurrence	True	Infancy	Inferred relationship	Some	1
Refractory infantile spasms co-occurrent with status epilepticus	Occurrence	False	Infancy	Inferred relationship	Some	1
Refractory infantile spasms co-occurrent with status epilepticus	Occurrence	False	Infancy	Inferred relationship	Some	2
Mental disorder in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Persistent hyperinsulinemic hypoglycemia of infancy (disorder)	Occurrence	False	Infancy	Inferred relationship	Some	1
Infantile idiopathic scoliosis of cervical spine	Occurrence	False	Infancy	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
7176015	Infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1195234019	Infancy (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228668012	Infancy - period	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
355551000195114	prima infanzia	it	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
276611000077114	petite enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2411001000117	Säuglingsalter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module