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255398004: Childhood (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
380597017 Childhood en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646432014 Childhood (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224895014 Childhood - period en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
363351000195111 infanzia it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
262151000077110 enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2391001000117 Kindesalter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
17931001000116 Kindheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Encopresis Occurrence True Childhood Inferred relationship Some 1
Functional encopresis Occurrence True Childhood Inferred relationship Some 1
Secondary organic encopresis Occurrence True Childhood Inferred relationship Some 1
Primary organic encopresis Occurrence True Childhood Inferred relationship Some 1
Encopresis with constipation AND overflow incontinence Occurrence True Childhood Inferred relationship Some 3
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. Occurrence True Childhood Inferred relationship Some 1
Acute infection caused by Paracoccidioides brasiliensis in childhood (disorder) Occurrence True Childhood Inferred relationship Some 1
Juvenile psoriatic arthritis with psoriasis Occurrence True Childhood Inferred relationship Some 1
Juvenile psoriatic arthritis with psoriasis Occurrence True Childhood Inferred relationship Some 2
Systemic onset juvenile chronic arthritis Occurrence True Childhood Inferred relationship Some 1
Juvenile idiopathic arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Persistent onset antinuclear antibody positive juvenile idiopathic oligoarthritis Occurrence True Childhood Inferred relationship Some 1
Extended oligoarticular onset antinuclear antibody negative juvenile idiopathic arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Persistent onset antinuclear antibody negative juvenile idiopathic oligoarthritis Occurrence True Childhood Inferred relationship Some 1
Extended oligoarticular onset antinuclear antibody positive juvenile idiopathic arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
A rare inflammatory rheumatic disease characterised by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset. Occurrence True Childhood Inferred relationship Some 1
Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset persistent oligoarthritis there is never involvement of more than four joints during the whole course of the disease. Occurrence True Childhood Inferred relationship Some 1
Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset extended oligoarthritis there is involvement of additional joints after the first six months of the disease, resulting in more than four joints being ultimately affected. Occurrence True Childhood Inferred relationship Some 1
Juvenile idiopathic arthritis, undifferentiated arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Polyarticular juvenile idiopathic arthritis Occurrence False Childhood Inferred relationship Some 4
Juvenile seronegative polyarthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Acute polyarticular juvenile idiopathic arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) Occurrence True Childhood Inferred relationship Some 2
Juvenile seropositive polyarthritis (disorder) Occurrence True Childhood Inferred relationship Some 1
Rheumatoid factor negative and anti-citrullinated protein antibody positive juvenile polyarthritis Occurrence True Childhood Inferred relationship Some 1
Rheumatoid factor negative and anti-citrullinated protein antibody negative juvenile polyarthritis Occurrence True Childhood Inferred relationship Some 1
Rheumatoid factor positive and anti-citrullinated protein antibody positive juvenile polyarthritis Occurrence True Childhood Inferred relationship Some 1
Rheumatoid factor positive and anti-citrullinated protein antibody negative juvenile polyarthritis Occurrence True Childhood Inferred relationship Some 1
Juvenile psoriatic arthritis Occurrence True Childhood Inferred relationship Some 1
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Occurrence True Childhood Inferred relationship Some 1
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Occurrence True Childhood Inferred relationship Some 2
Juvenile arthritis in ulcerative colitis Occurrence True Childhood Inferred relationship Some 2
Juvenile arthritis in Crohn's disease (disorder) Occurrence True Childhood Inferred relationship Some 3
Juvenile spondyloarthropathy (disorder) Occurrence True Childhood Inferred relationship Some 1
Juvenile reactive arthritis Occurrence True Childhood Inferred relationship Some 1
Late onset polyarticular juvenile chronic arthritis Occurrence True Childhood Inferred relationship Some 1
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. Occurrence True Childhood Inferred relationship Some 1
A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported. Occurrence True Childhood Inferred relationship Some 1
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. Occurrence True Childhood Inferred relationship Some 3
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. Occurrence True Childhood Inferred relationship Some 1
LIMS2-related limb girdle muscular dystrophy Occurrence True Childhood Inferred relationship Some 1
A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others. Occurrence True Childhood Inferred relationship Some 1
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. Occurrence True Childhood Inferred relationship Some 1
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. Occurrence True Childhood Inferred relationship Some 2
Type 2A juvenile hereditary hemochromatosis (disorder) Occurrence True Childhood Inferred relationship Some 1
Type 2B juvenile hereditary hemochromatosis Occurrence True Childhood Inferred relationship Some 1
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern. Occurrence True Childhood Inferred relationship Some 1
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. Occurrence True Childhood Inferred relationship Some 1
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Occurrence True Childhood Inferred relationship Some 1
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits. Occurrence True Childhood Inferred relationship Some 1
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits. Occurrence True Childhood Inferred relationship Some 2
Functional abdominal pain of childhood Occurrence True Childhood Inferred relationship Some 1
Functional vomiting in childhood (disorder) Occurrence True Childhood Inferred relationship Some 1
Functional disorder of gastrointestinal tract in childhood Occurrence True Childhood Inferred relationship Some 1
Functional aerophagy in childhood Occurrence True Childhood Inferred relationship Some 1
A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases). Occurrence True Childhood Inferred relationship Some 1
A benign epithelial ovarian tumour characterised by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. Occurrence True Childhood Inferred relationship Some 1
A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality. Occurrence True Childhood Inferred relationship Some 1
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. Occurrence True Childhood Inferred relationship Some 1
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. Occurrence True Childhood Inferred relationship Some 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Occurrence True Childhood Inferred relationship Some 5
Urticaria multiforme Occurrence True Childhood Inferred relationship Some 1
Physiological development failure Occurrence True Childhood Inferred relationship Some 1
Child developmental finding Occurrence True Childhood Inferred relationship Some 1
Delay in physiological development (finding) Occurrence True Childhood Inferred relationship Some 1
Childhood Occurrence True Childhood Inferred relationship Some 1
Childhood chronic lichenified atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 1
Childhood chronic lichenified atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 2
Childhood pruriginous atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 1
Childhood pruriginous atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 2
Childhood impetiginised atopic dermatitis Occurrence True Childhood Inferred relationship Some 1
Childhood nummular atopic eczematous dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 1
Childhood generalised erythematous atopic dermatitis Occurrence True Childhood Inferred relationship Some 1
Childhood generalised erythematous atopic dermatitis Occurrence True Childhood Inferred relationship Some 2
Childhood flexural atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 1
Childhood atopic dermatitis (disorder) Occurrence True Childhood Inferred relationship Some 1
Juvenile pityriasis rubra pilaris (disorder) Occurrence False Childhood Inferred relationship Some 3
Classical juvenile pityriasis rubra pilaris Occurrence False Childhood Inferred relationship Some 2
Circumscribed juvenile pityriasis rubra pilaris Occurrence False Childhood Inferred relationship Some 2
Atypical juvenile pityriasis rubra pilaris Occurrence False Childhood Inferred relationship Some 2
Macular oedema due to juvenile central retinal vein occlusion Occurrence True Childhood Inferred relationship Some 2
Neovascularization of eye due to juvenile central retinal vein occlusion Occurrence True Childhood Inferred relationship Some 2
Child at increased risk for overweight body mass index greater than 85 percentile (finding) Occurrence True Childhood Inferred relationship Some 2
Alexander disease juvenile form Occurrence False Childhood Inferred relationship Some 1
Alexander disease juvenile form Occurrence False Childhood Inferred relationship Some 2
Alexander disease juvenile form Occurrence False Childhood Inferred relationship Some 4
Primary infantile fibrosarcoma Occurrence False Childhood Inferred relationship Some 1
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. Occurrence True Childhood Inferred relationship Some 2
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Occurrence True Childhood Inferred relationship Some 4
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm count or azoospermia have also been reported. Occurrence True Childhood Inferred relationship Some 2
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 True Childhood Inferred relationship Some 2
A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. Occurrence True Childhood Inferred relationship Some 1
A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. Occurrence True Childhood Inferred relationship Some 2
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Occurrence True Childhood Inferred relationship Some 1
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Occurrence True Childhood Inferred relationship Some 2
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Occurrence True Childhood Inferred relationship Some 3
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Occurrence True Childhood Inferred relationship Some 1
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Occurrence True Childhood Inferred relationship Some 2
Pediatric locking of interphalangeal joint of right thumb (disorder) Occurrence True Childhood Inferred relationship Some 1
Pediatric trigger thumb of left hand Occurrence True Childhood Inferred relationship Some 1

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