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308490002: Pathological developmental process (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
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Rupture of congenital aneurysm of cerebral artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Early myoclonic encephalopathy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomia with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Rasmussen syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital velopharyngeal incompetence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital hypoplasia of testis and scrotum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital occlusion of ureteral orifice (disorder) Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Right streak ovary (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left streak ovary (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fanconi anemia of complementation group C Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital dysplasia of limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of right renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of left renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of renal vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of left renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anterior staphyloma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anterior staphyloma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anterior staphyloma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital anterior staphyloma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital bowing of long bone (disorder) Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process 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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital anomaly of blood vessels of upper limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital anomaly of blood vessels of upper limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital stenosis of renal arteries Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital stenosis of renal arteries Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital keratoglobus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital anomaly of ossicle of right ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ossicle of left ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ossicles of bilateral ears (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ossicles of bilateral ears (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndactyly of fingers of left hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of toes of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of fingers of right hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of toes of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dysplasia of left lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bowing of left femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bowing of right femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bowing of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bowing of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital dysplasia of right lower limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dysplasia of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dysplasia of bilateral lower limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of bilateral calcanea (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral calcanea (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of bilateral clavicles Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral clavicles Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of bilateral knee joints Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral knee joints Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of left forearm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of right forearm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bone of bilateral forearms (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bone of bilateral forearms (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Left split foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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