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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
3858451000005115 patologisk udviklingsproces da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Dobbelt nyre OG/ELLER bækken Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Tetralogy of Fallot with pulmonary stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Tetralogy of Fallot with pulmonary stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Tetralogy of Fallot with pulmonary stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Tetralogy of Fallot with pulmonary stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
hemicentrisk centrum i halshvirvels corpus vertebrae Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Palmar pitting due to Darier disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of portal vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular neurocutaneous syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Vascular neurocutaneous syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
L - transposition of the great vessels (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
L - transposition of the great vessels (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachymetapodia i 4. metatarsalknogle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Myxedematous form of cretinism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital atresia of pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of rib cartilage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft palate and bilateral cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Periventricular leucomalacia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Absent atrioventricular connection with straddling valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Absent atrioventricular connection with straddling valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Orofacial cleft (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomalies of elbow and upper arm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomalies of elbow and upper arm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mirror-imaged heart (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of vomer Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital misalignment of arch of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of tibia and fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of tibia and fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital renal failure Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Postductal hypoplasia of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trifalangeale tommelfingre med onykodystrofi Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous origin of ductus arteriosus from left carotid artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital sternomastoid tumour Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of vagina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory adrenal gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of left testis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of breast Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbosacral prespondylolisthesis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Lumbosacral prespondylolisthesis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital corneal opacity with visual deficit Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lumbar spina bifida without hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Lumbar spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of aortic valve cusp Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of liver Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial anomalous pulmonary venous connection of entire right lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of centrum of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lethal chondrodysplasia with fragmented bone (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Functional single ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Overriding tricuspid valve (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Overriding tricuspid valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital shortening of upper arm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital peripheral pulmonary artery stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital forefoot valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
tredobbelt nyreanlæg Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Muscle eye brain disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Muscle eye brain disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Type 2 lissencephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia of esophagus without tracheoesophageal fistula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Café-au-lait macules with pulmonary stenosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Café-au-lait macules with pulmonary stenosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Floating gallbladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Floating gallbladder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cleft leaflet of mitral valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cleft leaflet of mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mesoaxial polydactyly of toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Desmiognathus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Desmiognathus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Desmiognathus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital trigger finger of left hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous course of coronary artery anterior to aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bronchus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transverse arrest carpal level Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transverse arrest carpal level Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Central incomplete cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Central incomplete cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Opodidymus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dilatation of ductus arteriosus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dimelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracodidymus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracodidymus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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