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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
Congenital isolated onychodysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplication of root of permanent tooth due to and following dental trauma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dilaceration of crown of permanent tooth due to and following dental trauma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infraocclusion of tooth due to and following dental trauma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
imperforation de valve commune atrioventriculaire Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve limited to one ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Triple orifice of left ventricular component of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ebstein's anomaly of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve chordae too short Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve chordae too long Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve chordae to outlet septum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Arcade abnormality of common atrioventricular valve chordae Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atresia of common atrioventricular valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypoplasia of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dysplasia of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve leaflet abnormality Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular valve prolapse Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Abnormality of common atrioventricular valve chordae tendinae Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Abnormality of common atrioventricular valve papillary muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fused common atrioventricular valve papillary muscle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypoplastic common atrioventricular valve papillary muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Abnormality of common atrioventricular valve in atrioventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Trifoliate left atrioventricular valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Triple orifice of left ventricular component of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ebstein's anomaly of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Common atrioventricular valve leaflet abnormality Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Common atrioventricular valve prolapse Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
True cleft of common atrioventricular valve leaflet Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital complete absence of left upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital complete absence of right upper limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sporadic camptodactyly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Kartagener syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 8
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Isolated distichiasis is a rare congenital eyelid anomaly. The disease has characteristics of an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices. This is not associated with any other condition and that may lead to ocular irritation and corneal damage if left untreated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isolated distichiasis is a rare congenital eyelid anomaly. The disease has characteristics of an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices. This is not associated with any other condition and that may lead to ocular irritation and corneal damage if left untreated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Leri-Weill dyschondrosteosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Leri-Weill dyschondrosteosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Leri-Weill dyschondrosteosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Leri-Weill dyschondrosteosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Leri-Weill dyschondrosteosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
Mesomelic dysplasia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mesomelic dysplasia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
syndrome de dyschondrostéose - néphropathie Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
syndrome de dyschondrostéose - néphropathie Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Nievergelt's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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