255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lipomyelomeningocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Lipomyelomeningocele	Occurrence	False	Congenital	Inferred relationship	Some	6
Lipomyelomeningocele	Occurrence	False	Congenital	Inferred relationship	Some	5
Lipomyelomeningocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Lumbar meningomyelocele	Occurrence	True	Congenital	Inferred relationship	Some	5
Lumbar meningomyelocele	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.	Occurrence	True	Congenital	Inferred relationship	Some	2
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	4
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	6
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	2
A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.	Occurrence	True	Congenital	Inferred relationship	Some	2
Meningomyelocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Meningomyelocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Meningomyelocele (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Meningomyelocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Myelomeningocele that occurs in the region L1 to L3.	Occurrence	False	Congenital	Inferred relationship	Some	4
Myelomeningocele that occurs in the region L1 to L3.	Occurrence	True	Congenital	Inferred relationship	Some	5
Myelomeningocele that occurs in the region L1 to L3.	Occurrence	True	Congenital	Inferred relationship	Some	3
Myelomeningocele that occurs in the region L1 to L3.	Occurrence	True	Congenital	Inferred relationship	Some	2
Thoracic meningomyelocele	Occurrence	True	Congenital	Inferred relationship	Some	5
Thoracic meningomyelocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Myelomeningocele that occurs in the region L4 to L5.	Occurrence	False	Congenital	Inferred relationship	Some	4
Myelomeningocele that occurs in the region L4 to L5.	Occurrence	True	Congenital	Inferred relationship	Some	5
Myelomeningocele that occurs in the region L4 to L5.	Occurrence	True	Congenital	Inferred relationship	Some	3
Myelomeningocele that occurs in the region L4 to L5.	Occurrence	True	Congenital	Inferred relationship	Some	2
A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goitre, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalise without treatment within 3 weeks of birth.	Occurrence	True	Congenital	Inferred relationship	Some	1
Myelomeningocele without hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Myelomeningocele without hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Myelomeningocele without hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Myelomeningocele without hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Myelomeningocele without hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32.	Occurrence	False	Congenital	Inferred relationship	Some	2
A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32.	Occurrence	False	Congenital	Inferred relationship	Some	1
Spina bifida aperta	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Occurrence	True	Congenital	Inferred relationship	Some	2
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Occurrence	True	Congenital	Inferred relationship	Some	1
Cervical meningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Cervical meningomyelocele	Occurrence	True	Congenital	Inferred relationship	Some	5
Reunion-Indiana Amish type muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Manifesting female carrier of X-linked muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy not predominantly limb girdle	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked limb girdle muscular dystrophy with normal dystrophin	Occurrence	True	Congenital	Inferred relationship	Some	1
Becker muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Benign scapuloperoneal muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Jis muskeldystrofi	Occurrence	False	Congenital	Inferred relationship	Some	1
Fukuyama congenital muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary myopathy limited to females	Occurrence	True	Congenital	Inferred relationship	Some	1
Facioscapulohumeral muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Merosin deficient congenital muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24.	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of body of uterus	Occurrence	True	Congenital	Inferred relationship	Some	1
Aplasia of body of uterus	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked muscular dystrophy not predominantly limb girdle	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic non-severe combined immunodeficiency disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.	Occurrence	False	Congenital	Inferred relationship	Some	1
Benign skapuloperoneal muskeldystrofi med kardiomyopati	Occurrence	False	Congenital	Inferred relationship	Some	1
Hutterite type of muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked muscular dystrophy with abnormal dystrophin	Occurrence	True	Congenital	Inferred relationship	Some	1
Scapulohumeral muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy not predominantly limb girdle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Intermediate X-linked muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.	Occurrence	True	Congenital	Inferred relationship	Some	1
McCune Albright syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Osteomesopyknose	Occurrence	False	Congenital	Inferred relationship	Some	3
Osteosclerosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Occurrence	True	Congenital	Inferred relationship	Some	3
Female pseudohermaphroditism	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	Occurrence	True	Congenital	Inferred relationship	Some	3
Encephalocele	Occurrence	True	Congenital	Inferred relationship	Some	1
lokaliseret hudatrofi på abdominalvæggen	Occurrence	False	Congenital	Inferred relationship	Some	2
Nasal encephalocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Nasal encephalocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Hydromyelia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheobronchomegaly	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital tracheobronchomegaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcystic renal disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital honeycomb lung	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cystic lung	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spastic foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spastic foot	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital deaf mutism	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete cleft of hard palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
380598010	Congenital	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
380599019	Congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)