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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
Multiple anterior segment anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fenestration of parietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple renal arteries Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Haemodynamically insignificant ventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fusion of kidneys (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Fusion of kidneys (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atelosteogenesis type 2 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of left circumflex artery from right coronary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of thyroid cartilage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of left ventricular outflow tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect - ventricular component Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atrioventricular septal defect - ventricular component Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal fetal duplication Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital macrostomia of left side of mouth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of accessory coronary artery from pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Focal dermal hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fissure of nose Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of patella (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital prolapse of urethra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital subcapsular cataract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary ear lobule Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aberrant insertion of frenum of tongue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Strudwick type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bertolotti's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bertolotti's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial ligament (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial ligament (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft lip sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory lung Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
kystes cérébraux congénitaux multiples Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Ductus arteriosus from retro-oesophageal aortic diverticulum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of parathyroid glands Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 5 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 5 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital myopathy with abnormal subcellular organelles Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bent radius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypospadias and epispadias Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa, albopapular type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Diverticulum of coronary sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiblepharon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A genetic syndrome characterized by the absence of all four limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A genetic syndrome characterized by the absence of all four limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A genetic syndrome characterized by the absence of all four limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A genetic syndrome characterized by the absence of all four limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ductus arteriosus from brachiocephalic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital macrostomia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital muscular dystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Greither type of ectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Greither type of ectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Micromelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isolation of left common carotid artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of scapula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dermatofibrosis lenticularis disseminata Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dermatofibrosis lenticularis disseminata Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital diverticulum of urinary bladder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hyperplasia of sebaceous glands of lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hyperplasia of sebaceous glands of lip Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A congenital developmental abnormality of the jejunum where there are multiple gaps in the intestine due to a mesenteric defect with elements of type I, type II and type III atresia creating a morphological appearance of a string of sausages; the intestine is always reduced in length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachymetatarsia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atretic right superior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal lung lobation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Anomalous valve of coronary sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Inverted pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Erythrodermic lamellar ichthyosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital fissure of larynx Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Linear/nevoid/zosteriform Darier's disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myelocele with hydrocephalus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Myelocele with hydrocephalus (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Myelocele with hydrocephalus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myelocele with hydrocephalus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital hypoplasia of penis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteochondrodysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1

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