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3658006: Infancy (qualifier value)

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

Descriptions:

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
7176015 Infancy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7176015 Infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7178019 Infantile state en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7178019 Infantile state en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
768348012 Infancy (function) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1195234019 Infancy (qualifier value) en Fully specified name Active Only initial character 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 Only initial character 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
2411001000117 Säuglingsalter de Synonym (core metadata concept) Active Entire term case sensitive (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
276611000077114 petite enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355551000195114 prima infanzia it 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

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infancy Is a Periods of life false Inferred relationship Existential restriction modifier (core metadata concept)
Infancy Is a Age AND/OR growth period false Inferred relationship Existential restriction modifier (core metadata concept)
Infancy Is a Period of life between birth and death true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
STING-associated vasculopathy with onset in infancy Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Hakuri Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Bile acid CoA ligase deficiency and defective amidation Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Papular mucinosis of infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Entire life Is a False Infancy Inferred relationship Existential restriction modifier (core metadata concept)
Fatal infantile cytochrome C oxidase deficiency (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile striatonigral degeneration (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Behr syndrome Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Self-healing collodion baby Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept)
Acral self-healing collodion baby Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept) 3
Infantile viral gastroenteritis Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile viral gastroenteritis Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile dystonia parkinsonism (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infant gastrointestinal regurgitation (finding) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Infant dyschezia (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile onset spinocerebellar ataxia (disorder) Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile onset spinocerebellar ataxia (disorder) Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 4
Infantile choroidocerebral calcification syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infant epilepsy with migrant focal crisis (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 4
Whiplash shaken infant syndrome (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Apnea of infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Erythroderma in infancy Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myoclonic epilepsy in infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Idiopathic hypercalcemia of infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile hypercalcemia Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Idiopathic infantile hypercalcaemia - mild form Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe idiopathic hypercalcemia of infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Food protein-induced colitis in infant Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Food protein-induced proctitis in infant Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Transient infantile hyperthyrotropinemia (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Underweight in infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Nutritional wasting in infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute malnutrition in infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Nutritional stunting in infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised 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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept) 1
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile stiff skin syndrome (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign infantile seizure with mild gastroenteritis syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Benign infantile seizure with mild gastroenteritis syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Benign infantile seizure with mild gastroenteritis syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Constantly crying infant (finding) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Melanotic neuroectodermal tumor of infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile hydrocele Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile gastroenteritis Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile gastroenteritis Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Nonbacterial gastroenteritis of infant Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Nonbacterial gastroenteritis of infant Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign partial epilepsy of infancy with complex partial seizures (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign infantile focal epilepsy with midline spikes and waves during sleep (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign partial epilepsy with secondarily generalised seizures in infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 2B5 (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive infantile hypercalcaemia Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
LAMB2-related infantile-onset nephrotic syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile autism (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Active infantile autism Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Residual infantile autism Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile onset panniculitis with uveitis and systemic granulomatosis (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile onset panniculitis with uveitis and systemic granulomatosis (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile onset panniculitis with uveitis and systemic granulomatosis (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Transient infantile hypertriglyceridemia and hepatosteatosis Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial infantile gigantism (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterised clinically by transient, but life-threatening acute liver failure episodes. Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute infantile liver failure with multisystemic involvement syndrome (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic infantile eczema Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Desmoplastic infantile astrocytoma and ganglioglioma (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic skeletal muscle disease with characteristics of 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. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile cerebellar and retinal degeneration (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile cerebellar and retinal degeneration (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile cerebellar and retinal degeneration (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 3
Malignant migrating partial seizures of infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial infantile myoclonic epilepsy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile-onset autosomal recessive non progressive cerebellar ataxia Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile cataract (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Cutaneous mastocytosis, infantile form (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Acute infantile eczema Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
High risk infant Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
acné infantile Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactocerebroside beta-galactosidase deficiency - early onset (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactocerebroside beta-galactosidase deficiency - early onset (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Michelin-tyre baby Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Refractory infantile spasms co-occurrent with status epilepticus Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Refractory infantile spasms co-occurrent with status epilepticus Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental disorder in infancy (disorder) Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Persistent hyperinsulinemic hypoglycemia of infancy Occurrence True Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile idiopathic scoliosis of cervical spine (disorder) Occurrence False Infancy Inferred relationship Existential restriction modifier (core metadata concept) 1

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