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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
Double aortic valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Long segment Hirschsprung's disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Long segment Hirschsprung's disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Long segment Hirschsprung's disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cryptophthalmos syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital atresia of nasopharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital heart disease in pregnancy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Choanal atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of both testes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of both testes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Coronary sinus drainage cephalad to right superior vena cava (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Azygos continuation of inferior vena cava to right superior vena cava (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hammer toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ulnar dimelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ulnar dimelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Right descending aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of jaw Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of zonula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Endocardial fibroelastosis of left atrium (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Endocardial fibroelastosis of left atrium (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Coarctation of infrarenal abdominal aorta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital flaccid paralysis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary arch of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Segmental neurofibromatosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Segmental neurofibromatosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intermandibular dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intermandibular dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supraorbital facial cleft - Tessier cleft 10 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malposition of coronary artery orifice (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Albinoidism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Total anomalous pulmonary venous connection to coronary sinus (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Total anomalous pulmonary venous connection to coronary sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of innominate artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital absence of fifth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Townes syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Townes syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Neuronal intestinal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neuronal intestinal dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Epidermolysis bullosa simplex with hypodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular outflow tract obstruction due to foreign body (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Lack of ossification of humerus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital retinal fold Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory left tarsal navicular bone (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Talipomanus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of trachea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of parietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Holoacardius acormus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fused commissures of mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mixed sclerosing bone dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleidocranial dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleidocranial dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleidocranial dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cleidocranial dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of digestive organs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ankylosis of elbow Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous insertion of right superior vena cava to left atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mesonephric cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital occlusion of coronary sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retrocaval ureter (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of epididymis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Full supernumerary rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Arterial malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of fixation of intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of exoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of radial head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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