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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
Distal origin of brachiocephalic trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory cuboid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital sacrococcygeal anomaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary artery orifice abnormally low (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of tarsal bone (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of body wall Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Celoschisis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Celoschisis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Abnormal liver lobulation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracopagus with conjoined atria and ventricles (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracopagus with conjoined atria and ventricles (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lack of ossification of zygomatic bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Localised junctional epidermolysis bullosa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Uterus bicornis bicollis with blind hemi-vagina (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Female hypospadias (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Female hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical spinal meningocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical spinal meningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cervical spinal meningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cervical spinal meningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ectopic lens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic hyperparathyroidism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital diverticulum of bile duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary sinus defect in left atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary sinus defect in left atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital diverticulum of colon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital fistula of urachus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydrorhachis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hydrorhachis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Hydrorhachis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ichthyosis hystrix Bäfverstedt type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Weissenbacher-Zweymuller syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Weissenbacher-Zweymuller syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Weissenbacher-Zweymuller syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Myelodysplasia of spinal cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transposition of colon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of skin on scalp with epidermal naevi Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Autosomal recessive familial woolly hair Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Arteriovenous angioma Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Constriction ring syndrome of lower limb with amputation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplication of fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multirooted tooth with convergent roots Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coronary orifice atresia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of spleen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Late secondary abnormalities of the central nervous system Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crowding of anterior maxillary teeth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Crowding of anterior maxillary teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory structure of lower respiratory tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Absent right sided atrioventricular connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of female genital system Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Criss-cross heart with rightward rotation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital ileal stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ophthalmo-acromelic syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Simple ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of arch of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Oro-facial digital syndrome type 13 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Vesicular appendix of ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmentation of lens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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