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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
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital hyperplasia of kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysplasia epiphysealis hemimelica Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Aplasia of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Limb reduction-ichthyosis syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hutterite type of muscular dystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Manus cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Manus cava Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Agenesis of pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital coronary artery fistula to pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital coronary artery fistula to pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of tarsal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Weill-Marchesani syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Weill-Marchesani syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Weill-Marchesani syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of tricuspid leaflet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of auditory ossicles Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of trachea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of left lower limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral cleft of primary palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acrocephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acrocephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital atresia of osseous meatus of middle ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bicornuate uterus affecting pregnancy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bullous ichthyosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Unilobar lung Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Unilobar lung Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hemimyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hemimyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hemicentric thoracic centrum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hemicentric thoracic centrum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Constriction ring syndrome of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory lacrimal gland disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cerebral arteriovenous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of lower limb and pelvic girdle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Situs inversus viscerum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Situs inversus viscerum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypoplastic thumb-Blauth 4 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniofacial cleft (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of eye bulge Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cutaneous lesion resulting from spina bifida (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of back Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mandibular prognathism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of penis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital non-progressive ataxia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Anomalous origin of coronary artery from left pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dentinogenesis imperfecta - Shield's type II Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Optic disc dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of brain Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of basisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Double aortic arch with balanced arches (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Occipital encephalocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Occipital encephalocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Occipital encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital syphilitic splenomegaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Universal mesentery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Universal mesentery Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of duodenum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondylocarpotarsal synostosis syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary tooth identifiable by tooth number Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of tibia AND/OR fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital megaduodenum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Conjoined twins causing disproportion Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Conjoined twins causing disproportion Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Total anomalous pulmonary venous connection of infracardiac type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Total anomalous pulmonary venous connection of infracardiac type (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
11p partial monosomy syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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