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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
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double aortic arch with dominant left arch and hypoplasia of right arch Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double aortic arch with dominant left arch and hypoplasia of right arch Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of larynx (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lymphangioma circumscriptum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of anterior chamber of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pulmonary valve dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of cerebrum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of nipple Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Penile hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Penile hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dicheirus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary benign acanthosis nigricans with insulin resistance Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hereditary benign acanthosis nigricans with insulin resistance Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary splenic hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Megaloappendix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of pharynx (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Riedel's lobe of liver Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Yunis-Varon dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Common arterial trunk and common origin of pulmonary arteries (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common arterial trunk and common origin of pulmonary arteries (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Severe X-linked myotubular myopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral atria Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous fistula infection Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of hyoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coarctation of pulmonary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coarctation of pulmonary artery Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anencephaly without rachischisis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Turcot syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Transverse deficiency of arm, upper arm level - long Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fenestration of basisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left superior caval vein persisting to coronary sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neuroectodermal endocrine syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Neuroectodermal endocrine syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial anomalous pulmonary venous connection of entire left lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital adhesions of tongue (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Levoatrial cardinal vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of spine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crowding of teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bohn's nodule (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of choroid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bone of shoulder girdle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital eventration of diaphragm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloenchondrodysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital coronary artery fistula to right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital coronary artery fistula to right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of pulmonary valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal origin of ductus arteriosus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bannayan syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bannayan syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital anomaly of middle ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Suprabasal epidermolysis bullosa simplex (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar hemivertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pyloric atresia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dilatation of lobar intrahepatic bile duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Late onset congenital adrenal hyperplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of knee grade III Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of ischium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Laryngeal cleft type IV Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of tricuspid papillary muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Western type of congenital muscular dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lunate-triquetrum synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lunate-triquetrum synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracic kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Central cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Epoophoron Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of auricle with atresia of auditory canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of auricle with atresia of auditory canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic anus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypoplasia of tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring of aorta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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