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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
Osteoglophonic dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Osteosclerosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metachondromatosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Punctate oculocutaneous albinoidism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Brachyolmia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
cheiro-spondylo-enchondromatose Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fibrous dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Atelosteogenesis/diastrophic dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Atelosteogenesis type 2 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Localized abdominal wall skin atrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypoplastic chondrodystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
hydromyélocèle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Microcystic renal disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
hydromyéloméningocèle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Polycystic kidney disease, infantile type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard palate with cleft lip, bilateral Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Complete bilateral cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral incomplete cleft palate with cleft lip Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Complete cleft of hard palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Split spinal cord malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Incomplete bilateral cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft of soft palate and bilateral cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Incomplete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bilateral complete and incomplete cleft lip Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bilateral cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Incomplete cleft palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral complete cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Bilateral complete cleft palate with cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Complete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Complete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cystic testicular dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Gynandromorphism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Impaction of tooth in buccal mucosa (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Reunion Island Larsen-like syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Reunion Island Larsen-like syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Reunion Island Larsen-like syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Impacted tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Impaction of tooth in palate (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Vestibular root angulation of tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Stomach in central position (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Condition where roots of adjacent teeth approximate each other resulting in minimal bone between teeth. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Infraerupted tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal root proximity between adjacent teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partially impacted tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Impacted incisors Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Tooth in buccoversion (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Completely impacted tooth in bone (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Labial ectopic tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Impacted tooth in soft tissue Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Impacted permanent canine tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Root angulation of tooth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Partially impacted tooth in bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Impacted premolars Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complicated impacted tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Reverse position of adjacent teeth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Displacement of tooth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Ectopic tooth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Nonsupernumerary impacted tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Impacted molars Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
dents incluses en position anormale Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anomaly of tooth position Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Embedded teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right-sided pulmonary arterial trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tooth in linguoversion Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Impacted third molar tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal spina bifida (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fetal spina bifida (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal hydrocephalus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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