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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
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Divided left atrium with some pulmonary veins to proximal chamber draining to left atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aganglionosis of large intestine (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Totally absent pericardium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Totally absent pericardium Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Constriction ring of lower limb with lymphedema Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Constriction ring of lower limb with lymphedema Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cor triatriatum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Streak ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplication of femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of finger (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of one tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Partial congenital absence of teeth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Partial congenital absence of teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epispadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epispadias (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Longitudinal deficiency of fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary orifice asymmetrical Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary orifice asymmetrical Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital dislocation of knee grade I Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of vomer Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Meckel's diverticulum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydrocephalus due to Arnold Chiari malformation type 2 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndactyly of fingers with fusion of bones Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thanatophoric dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal atrioventricular connection (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Single umbilical artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cheilognathouranoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cheilognathouranoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of alisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory liver Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Posterior lenticonus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal dominant oculocutaneous albinism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Autosomal dominant oculocutaneous albinism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Dicephalus dipus dibrachius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dicephalus dipus dibrachius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Dicephalus dipus dibrachius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital malformation of clitoris Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pectus excavatum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pectus excavatum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital stricture of external auditory canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile GM1 gangliosidosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of salivary gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular septal defect with malaligned outlet septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cephalodymus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Cephalodymus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital anomaly of retina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Secondary megacolon - congenital Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia of pupil Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of exoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hyperplasia of islet alpha cells with gastrin excess Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital entropion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of eyelash Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of tongue, mouth and pharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of tongue, mouth and pharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital malformation of tongue, mouth and pharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Branchial cleft sinus and fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of sphenoid wing (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of digestive organ (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital fusion of testis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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