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
Infantile idiopathic scoliosis of cervical spine	Occurrence	False	Infancy	Inferred relationship	Some	1
Infantile breast hypertrophy	Occurrence	True	Infancy	Inferred relationship	Some	1
Refractory infantile spasms (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	2
Refractory infantile spasms (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Fibrous hamartoma of infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Cradle cap	Occurrence	True	Infancy	Inferred relationship	Some	1
Generalized seborrheic dermatitis of infants	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.	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	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	True	Infancy	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	True	Infancy	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile eczema	Occurrence	True	Infancy	Inferred relationship	Some	1
Excessive crying of infant (finding)	Occurrence	True	Infancy	Inferred relationship	Some	2
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate 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, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Occurrence	True	Infancy	Inferred relationship	Some	4
Idiopathic hepatitis in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Sclerema neonatorum	Occurrence	True	Infancy	Inferred relationship	Some	2
Acropustulosis of infancy	Occurrence	True	Infancy	Inferred relationship	Some	2
Reactive attachment disorder of infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Miliaria crystallina, infantile (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Miliaria crystallina, infantile (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	2
Underactive infant	Occurrence	True	Infancy	Inferred relationship	Some	2
Benign extra-axial hygroma (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile pustular psoriasis	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile pustular psoriasis	Occurrence	True	Infancy	Inferred relationship	Some	2
STING-associated vasculopathy with onset in infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Warts of perianal region in infancy caused by human papillomavirus (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Salt-wasting syndrome of infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile esotropia (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Esotropia with dissociated vertical deviation	Occurrence	True	Infancy	Inferred relationship	Some	1
Esotropia with nystagmus	Occurrence	True	Infancy	Inferred relationship	Some	1
Esotropia with nystagmus block	Occurrence	True	Infancy	Inferred relationship	Some	1
Bilateral infantile esotropia of eyes	Occurrence	True	Infancy	Inferred relationship	Some	1
Bilateral infantile esotropia of eyes	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile esotropia of right eye	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile esotropia of left eye	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile hemangioma of subglottis (disorder)	Occurrence	False	Infancy	Inferred relationship	Some	1
Sporadic infantile bilateral striatal necrosis	Occurrence	True	Infancy	Inferred relationship	Some	1
Segmental infantile hemangioma	Occurrence	False	Infancy	Inferred relationship	Some	1
Propriospinal myoclonus at sleep onset in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Erythroderma in infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	Occurrence	False	Infancy	Inferred relationship	Some	1
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	Occurrence	False	Infancy	Inferred relationship	Some	2
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	Occurrence	False	Infancy	Inferred relationship	Some	3
Aggressive infantile fibromatosis	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile digital fibromatosis (disorder)	Occurrence	False	Infancy	Inferred relationship	Some	2
Miliaria rubra, infantile (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Idiopathic arterial calcification of infancy	Occurrence	True	Infancy	Inferred relationship	Some	1
Acquired iron deficiency anaemia due to increased requirement in infancy	Occurrence	True	Infancy	Inferred relationship	Some	3
Infant behavior alteration (finding)	Occurrence	True	Infancy	Inferred relationship	Some	2
Infantile fucosidosis	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile glycine encephalopathy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Juvenile polyposis of infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile posthaemorrhagic hydrocephalus	Occurrence	True	Infancy	Inferred relationship	Some	1
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.	Occurrence	True	Infancy	Inferred relationship	Some	3
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	3
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Occurrence	True	Infancy	Inferred relationship	Some	3
Infantile pyknocytosis (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.	Occurrence	True	Infancy	Inferred relationship	Some	3
Functional constipation of infant	Occurrence	True	Infancy	Inferred relationship	Some	1
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.	Occurrence	True	Infancy	Inferred relationship	Some	3
Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures. So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.	Occurrence	True	Infancy	Inferred relationship	Some	1
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	Occurrence	True	Infancy	Inferred relationship	Some	1
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Occurrence	True	Infancy	Inferred relationship	Some	1
Toilet trained	Occurrence	True	Infancy	Inferred relationship	Some	1
Finding of infant milestone	Occurrence	True	Infancy	Inferred relationship	Some	1
Impairment of infant development (finding)	Occurrence	True	Infancy	Inferred relationship	Some	1
Impairment of newborn development	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile pedal papules	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile impetiginised atopic dermatitis	Occurrence	True	Infancy	Inferred relationship	Some	1
An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging.	Occurrence	True	Infancy	Inferred relationship	Some	2
Alexander disease type I (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Alexander disease type I (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	2
Alexander disease type I (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	4
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Occurrence	True	Infancy	Inferred relationship	Some	6
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	Occurrence	True	Infancy	Inferred relationship	Some	3
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	Occurrence	True	Infancy	Inferred relationship	Some	1
Acute constipation in infancy (finding)	Occurrence	True	Infancy	Inferred relationship	Some	1
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.	Occurrence	True	Infancy	Inferred relationship	Some	1
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.	Occurrence	True	Infancy	Inferred relationship	Some	2
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.	Occurrence	True	Infancy	Inferred relationship	Some	3
Chronic pneumonitis of infancy (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile digital fibromatosis (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Infantile botulism (disorder)	Occurrence	True	Infancy	Inferred relationship	Some	1
Victim of infant neglect (finding)	Occurrence	True	Infancy	Inferred relationship	Some	3

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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