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308490002: Pathological developmental process (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3858451000005115 patologisk udviklingsproces da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Worth disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Venous anomaly of umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital crossed toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gastric atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ovarian dysgenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial aphalangia of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anodontia of primary dentition Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anodontia of primary dentition Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital fenestration of nasal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Preductal interruption of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Polyostotic fibrous dysplasia of bone Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital abnormality of vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Penoscrotal hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Penoscrotal hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory parathyroid gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of left lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital subaortic stenosis of tunnel type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Alacrima Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spheno-frontal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spheno-frontal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Idiopathic multicentric osteolysis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia and stenosis of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atresia and stenosis of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ullrich congenital muscular dystrophy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of superior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail defects Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with right aortic arch and left arterial ligament between left subclavian artery and left common carotid artery Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Vascular ring with right aortic arch and left arterial ligament between left subclavian artery and left common carotid artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Biliary anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nievergelt's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of supraoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital stenosis of small intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontal dysostosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Incomplete left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral muscular infundibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortico-left ventricular tunnel of simple type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aortico-left ventricular tunnel of simple type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hepatoportal microvascular dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of arch of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory gonad Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hemihypertrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fold of posterior segment of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital diverticulum of trachea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal recessive ocular albinism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical hemivertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of primary palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Right superior vena cava connecting to coronary sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right superior vena cava connecting to coronary sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mulibrey nanism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Arteriovenous malformation of face (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
hemicentrisk lændehvirvels corpus vertebrae Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
hemicentrisk lændehvirvels corpus vertebrae Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Carpenter Waziri syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Carpenter Waziri syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ureter Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital displacement of esophagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital portal-systemic shunt in which at least some portal blood perfuses the liver. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aplasia of auditory canal Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of epididymis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cutaneous lesion resulting from spinal dysraphism (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Pulmonary atresia with ventricular septal defect of Fallot type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pulmonary atresia with ventricular septal defect of Fallot type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of abdomen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital structural abnormality of eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Turner's tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Phylloid hypomelanosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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