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255399007: Congenital (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
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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Occurrence True Congenital Inferred relationship Some 3
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Occurrence True Congenital Inferred relationship Some 2
Rupture of congenital aneurysm of cerebral artery (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Occurrence True Congenital Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Occurrence True Congenital Inferred relationship Some 5
Congenital hypoplasia of testis and scrotum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital occlusion of ureteral orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Some 2
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Some 3
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Some 4
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Some 5
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Right streak ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Left streak ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Fanconi anemia of complementation group C Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Occurrence True Congenital Inferred relationship Some 2
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Occurrence True Congenital Inferred relationship Some 3
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Occurrence True Congenital Inferred relationship Some 4
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. Occurrence True Congenital Inferred relationship Some 1
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. Occurrence True Congenital Inferred relationship Some 2
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. Occurrence True Congenital Inferred relationship Some 3
Lysosomal storage disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Sphingolipid activator protein 1 deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy without arylsulfatase deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy, juvenile type Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy, late infantile type Occurrence True Congenital Inferred relationship Some 3
Gaucher's disease Occurrence True Congenital Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Occurrence True Congenital Inferred relationship Some 3
Sphingolipidosis Occurrence True Congenital Inferred relationship Some 1
Galactocerebroside beta-galactosidase deficiency - early onset Occurrence True Congenital Inferred relationship Some 3
Arylsulfatase A deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Occurrence True Congenital Inferred relationship Some 3
Metachromatic leucodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 3
Perinatal lethal Gaucher disease (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. Occurrence True Congenital Inferred relationship Some 2
Metachromatic leucodystrophy, adult type Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Occurrence True Congenital Inferred relationship Some 4
Dystonia due to metachromatic leucodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 6
Chronic non-neuropathic Gaucher's disease Occurrence True Congenital Inferred relationship Some 2
Atypical Gaucher disease due to saposin C deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. Occurrence True Congenital Inferred relationship Some 3
Severe hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Severe hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Moderate hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Moderate hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Mild hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Mild hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital malformation of right renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of left renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of renal vein Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 2
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 4
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 5
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. Occurrence True Congenital Inferred relationship Some 2
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. Occurrence True Congenital Inferred relationship Some 3
Haemoglobin D beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Haemoglobin E beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Haemoglobin C beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Hemoglobin E beta zero thalassemia Occurrence True Congenital Inferred relationship Some 1
Hemoglobin D beta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 1
Haemoglobin C beta zero thalassaemia Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital melanocytic nevus of skin of left lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of right lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic naevus of skin of right upper eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic naevus of skin of lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of upper eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of left upper eyelid Occurrence True Congenital Inferred relationship Some 1
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. Occurrence True Congenital Inferred relationship Some 1
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. Occurrence True Congenital Inferred relationship Some 2
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. Occurrence True Congenital Inferred relationship Some 3
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital stenosis of renal arteries Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital stenosis of renal arteries Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cutaneous mastocytosis Occurrence True Congenital Inferred relationship Some 2
Delta beta thalassemia trait (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital keratoglobus Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 3

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