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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
Osteogenesis imperfecta, type IV A Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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 1
Congenital dermal sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal or neonatal effect of maternal use of alcohol Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of left finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double aortic arch with both patent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of subclavian artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Low set ears Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete cleft of soft palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of cricoid cartilage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal carbamazepine syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ectropion of lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary azygos vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anterior perimaxillary faciosynostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Chondrodysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Unicoronal craniosynostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of nares Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of accessory coronary artery from aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital displacement of stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persistent tunica vasculosa lentis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persistent tunica vasculosa lentis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Persistent tunica vasculosa lentis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital trigger finger of right hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital blind loop syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epidermolysis simplex superficialis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dubin-Johnson syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of metacarpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Macroencephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nodular renal blastema Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ichthyosis linearis circumflexa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of quadriceps muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of tarsal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pilotto syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pilotto syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypoplasia of left pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary lymphangiectasis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary lymphangiectasis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital pulmonary lymphangiectasis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pulmonary venous hypoplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital prognathism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal connection of hepatic vein to atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal connection of hepatic vein to atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Escobar syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Enamel spur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital right vesicoureterorenal reflux Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital right vesicoureterorenal reflux Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anomalous course of coronary artery posterior to aorta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Total congenital alopecia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Winchester syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontoethmoidal encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Frontoethmoidal encephalocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary neurocutaneous angiomata (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hereditary neurocutaneous angiomata (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Macrogyria Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Distal penile hypospadias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Distal penile hypospadias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital synostosis of lower limb bones Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary acinar dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital bilateral internal tibial torsion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital bilateral internal tibial torsion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lymphangiomatosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deficiency of pigment of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft hard and soft palate with right cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta - recessive - rough Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormalities of thoracic aortic branches Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital absence of clitoris (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of lumbar vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular muscular infundibular stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Completely unroofed coronary sinus defect in left atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Completely unroofed coronary sinus defect in left atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anomalous origin of arterial duct from left brachiocephalic artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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