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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
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteosclerosis - Stanescu type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mitral valve dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Holoprosencephaly sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of chest wall Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bicuspid doming of aortic cusp (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital short quadriceps Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic parathyroid hormone-related protein secretion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Duplicated collecting system without obstruction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bent hyoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Midline facial cleft - Tessier cleft 0 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Uterus bicornis unicollis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of tricuspid valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of anterior pituitary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital misalignment of centrum of lumbar vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of vagina affecting pregnancy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital female urogenital anomaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amyoplasia congenita disruptive sequence Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Craniofacial microsomia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Juberg Marsidi syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital anomaly of head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ileum duplex Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of presphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cranio-orbito-ocular dysraphia syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous course of coronary artery anterior to pulmonary trunk and aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Doubly committed subarterial ventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal long growth of bile duct Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital abnormal long growth of bile duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of ilium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Undescended testicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Undescended testicle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ichthyosis vulgaris Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple epiphyseal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - closed Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Distichiasis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Capillary-venous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Capillary-venous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital overgrowth of whole lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Patent ductus arteriosus with right-to-left shunt (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of urinary bladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3

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