255398004: Childhood (qualifier value)

SNOMED CT Concept\Qualifier value\...

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

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

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

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
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
Steroid sensitive nephrotic syndrome of childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	4
Impairment of child development	Occurrence	True	Childhood	Inferred relationship	Some	1
Steroid resistant nephrotic syndrome of childhood	Occurrence	True	Childhood	Inferred relationship	Some	4
Interstitial lung disease of childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile hemangioendothelioma	Occurrence	False	Childhood	Inferred relationship	Some	2
Overconsumption of milk in childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
Early childhood (qualifier value)	Is a	True	Childhood	Inferred relationship	Some
Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.	Occurrence	True	Childhood	Inferred relationship	Some	1
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	4
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	Childhood	Inferred relationship	Some	5
Irritable bowel syndrome variant of childhood with diarrhea	Occurrence	True	Childhood	Inferred relationship	Some	1
Entire life	Is a	False	Childhood	Inferred relationship	Some
Irritable bowel syndrome variant of childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
Irritable bowel syndrome variant of childhood with constipation	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder)	Occurrence	False	Childhood	Inferred relationship	Some	3
Childhood cellulitis of perianal region caused by beta-hemolytic Streptococcus group A (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	Occurrence	True	Childhood	Inferred relationship	Some	2
Gastroesophageal reflux in child	Occurrence	False	Childhood	Inferred relationship	Some
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	Occurrence	False	Childhood	Inferred relationship	Some	8
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	Occurrence	False	Childhood	Inferred relationship	Some	9
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature.	Occurrence	False	Childhood	Inferred relationship	Some	3
Pediatric onset systemic sclerosis (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Gender dysphoria in childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Severe pediatric obstructive sleep apnea (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	2
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.	Occurrence	False	Childhood	Inferred relationship	Some	4
Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder)	Occurrence	False	Childhood	Inferred relationship	Some	2
Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Oppositional defiant disorder without chronic irritability-anger (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenil dermatitis herpetiformis	Occurrence	False	Childhood	Inferred relationship	Some	2
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.	Occurrence	True	Childhood	Inferred relationship	Some	2
Anogenital streptococcal cellulitis of infancy and childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
Epilepsy of infancy with migrating focal seizures	Occurrence	True	Childhood	Inferred relationship	Some	1
infantilt anfald	Occurrence	False	Childhood	Inferred relationship	Some	1
problem i forhold til barn	Occurrence	False	Childhood	Inferred relationship	Some	3
Short stature of childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Pediatric follicular lymphoma (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	2
Acute polyarticular juvenile idiopathic arthritis (disorder)	Occurrence	False	Childhood	Inferred relationship	Some
Juvenile osteochondrosis of right tarsal navicular (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile osteochondrosis of left tarsal navicular	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile osteochondrosis of right second metatarsal	Occurrence	True	Childhood	Inferred relationship	Some	3
Juvenile osteochondrosis of left second metatarsal	Occurrence	True	Childhood	Inferred relationship	Some	1
Polyarticular juvenile idiopathic arthritis	Occurrence	False	Childhood	Inferred relationship	Some
A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.	Occurrence	True	Childhood	Inferred relationship	Some	1
Childhood onset conduct-dissocial disorder	Occurrence	True	Childhood	Inferred relationship	Some	1
Underweight in childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
Nutritional wasting in childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Acute malnutrition in childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Nutritional stunting in childhood (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	1
Pediatric onset Sjögren syndrome	Occurrence	False	Childhood	Inferred relationship	Some	2
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	Occurrence	True	Childhood	Inferred relationship	Some	1
Gender identity disorder of childhood	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	Occurrence	True	Childhood	Inferred relationship	Some	1
Recurrent benign focal seizures of childhood	Occurrence	False	Childhood	Inferred relationship	Some	1
Gastroesophageal reflux in child	Occurrence	True	Childhood	Inferred relationship	Some	1
Acquired megacolon in child (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	2
Acquired megacolon in child (disorder)	Occurrence	False	Childhood	Inferred relationship	Some	1
Acquired epileptic aphasia	Occurrence	True	Childhood	Inferred relationship	Some	1
Mucinous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of 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
Serous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of 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
Childhood double incontinence (finding)	Occurrence	False	Childhood	Inferred relationship	Some	3
A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	Occurrence	False	Childhood	Inferred relationship	Some	1
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare genetic neurological disorder with characteristics of childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculo clonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	Occurrence	False	Childhood	Inferred relationship	Some	1
Coxa plana	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	Occurrence	True	Childhood	Inferred relationship	Some	1
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Occurrence	True	Childhood	Inferred relationship	Some	5
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	Occurrence	True	Childhood	Inferred relationship	Some	1
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	Occurrence	True	Childhood	Inferred relationship	Some	1
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	Occurrence	True	Childhood	Inferred relationship	Some	1
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.	Occurrence	True	Childhood	Inferred relationship	Some	2
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile tabes dorsalis	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	Occurrence	True	Childhood	Inferred relationship	Some	2
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	Occurrence	True	Childhood	Inferred relationship	Some	3
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	Occurrence	True	Childhood	Inferred relationship	Some	1
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	Occurrence	False	Childhood	Inferred relationship	Some	2
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others.	Occurrence	False	Childhood	Inferred relationship	Some	1
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	Occurrence	True	Childhood	Inferred relationship	Some	2
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	Occurrence	True	Childhood	Inferred relationship	Some	3
A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated.	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated.	Occurrence	True	Childhood	Inferred relationship	Some	2
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile osteochondrosis of left tarsus	Occurrence	True	Childhood	Inferred relationship	Some	4
Juvenile osteochondrosis of bilateral tarsals (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	5
Juvenile osteochondrosis of right tarsus (disorder)	Occurrence	True	Childhood	Inferred relationship	Some	4
Juvenile arthritis of inflammatory bowel disease	Occurrence	True	Childhood	Inferred relationship	Some	1
Juvenile plantar dermatosis	Occurrence	True	Childhood	Inferred relationship	Some	1
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	Occurrence	True	Childhood	Inferred relationship	Some	2
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	Occurrence	True	Childhood	Inferred relationship	Some	1

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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
2235941000005119	Barndom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)