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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
Senter syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachydactyly syndrome type B (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachydactyly syndrome type B (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Usher syndrome type 2 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Muscular ventricular septum defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Premature restriction of foramen ovale (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transposition of appendix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fibrolipoma of filum terminale Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital positional plagiocephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital supravalvular aortic stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Internal malleolar torsion Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital anomaly of cerebrovascular system Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duodenal web Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Duodenal web Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absent blood vessel in umbilical cord Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Perodactylia of lesser toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondylodysplastic group Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anterior urethral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acrosyndactyly of toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of pancreas Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of optic disc Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pseudoarthrosis of tibia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic valve ring hypoplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Dysplasia of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dysplasia of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Grob's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Duane-radial ray syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Duane-radial ray syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracic aortic coarctation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Paraspadias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of basioccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Macrocephaly Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of humerus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Basal epidermolysis bullosa simplex (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital lacrimal fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Goltz syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Goltz syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous pulmonary venous connection of mixed type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Benign autosomal dominant osteopetrosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of spine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of testis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pallister-Hall syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Simple syndactyly of toes second to fourth web Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Simple syndactyly of toes second to fourth web Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fried's tooth and nail syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fried's tooth and nail syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of urethra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Radioulnar synostosis and dislocation of radial head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radioulnar synostosis and dislocation of radial head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracopagus with separate hearts and common pericardial sac Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracopagus with separate hearts and common pericardial sac Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hemimyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hemimyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anomalous origin of left circumflex coronary artery from pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital obstructive hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peg-shaped teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peg-shaped teeth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Truncal valve dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital cyst of mediastinum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of soft palate and cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of soft palate and cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital muscular subaortic stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypothyroidism without goitre Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aberrant insertion of labial frenulum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Auriculo-condylar syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Auriculo-condylar syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ichthyosis bullosa of Siemens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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