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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
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital misalignment of arch of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
manglende passage i jejunum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital deformity of lumbosacral joint (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital atrial septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic ureter (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Prader-Willi syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital malposition of spleen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fenestration of interparietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of arch of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of jaw Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary metacarpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Overtallige rødder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital broncho-esophageal fistula without atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital broncho-esophageal fistula without atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Spina bifida of cervical region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida of cervical region Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Spina bifida of cervical region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital atresia of oesophagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital abnormal fusion of femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
ikke-bulløs iktyosiform erytrodermi Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Melnick-Needles syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
hemicentrisk centrum i sakralhvirvels corpus vertebrae Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Cerebrofacial arteriovenous metameric syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracolumbar spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracolumbar spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Nevus comedonicus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Arterial embryological remnant Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sinus pericranii Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Sinus pericranii Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Sinus pericranii Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple synostosis syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital postural scoliosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypoplasia of exoccipital bone (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Swans syndrom II Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Longitudinal absence of radius AND ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal absence of radius AND ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Port-wine stain associated with spinal dysraphism (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Port-wine stain associated with spinal dysraphism (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete phocomelia of upper limb Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Complete phocomelia of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of coronary artery from right pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Flynn-Aird syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Flynn-Aird syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of left clavicle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of squamosal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of papillary muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Curry-Hall syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Curry-Hall syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Marshall syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Marshall syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Marshall syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital transverse mandibular hyperplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydatid cyst of Morgagni - female Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acrocephalopolysyndactyly type IV Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Acrocephalopolysyndactyly type IV Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Persistent descending vein Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Persistent descending vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of broad ligament Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Absence of primary mitral chordae tendinae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of cardiac connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bifid mandibular condyle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lenz microphthalmia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Immuno-osseous dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Hypohidrosis with neurolabyrinthitis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hypohidrosis with neurolabyrinthitis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypohidrosis with neurolabyrinthitis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital absence of skeletal muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Manus valga Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Manus valga Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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