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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
Supramitral left atrial ring (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of lacrimal drainage system (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fistula between uterus and urinary tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital fistula between uterus and urinary tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital chorioretinal degeneration Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital chorioretinal degeneration Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Incomplete ossification of tarsal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vertical orbital dystopia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of nasal septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Overgrowth of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Overgrowth of upper limb Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Multiple gastrointestinale atresier Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Craniodiaphyseal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Achondrogenesis, type II Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Achondrogenesis, type II Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Grebe syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Grebe syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital misalignment of rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vitelline duct polyp (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sandman-Andra syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sandman-Andra syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft uvula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft uvula Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ectopic ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rolland-Debuqois syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Capitate-hamate synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Capitate-hamate synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of uterus and cervix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hypoplasia of uterus and cervix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
kongenit vaskulær misdannelse af orbita Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormal shape of ischium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary fused sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Supernumerary fused sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of hepatic vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of carpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of rotation of cecum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Failure of rotation of cecum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of digestive organs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Diplopodia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete bilateral cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of biliary duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of left kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ptosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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 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) True Pathological developmental process Inferred relationship Some 1
Corneal size and shape anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Uterus subseptus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inverse junctional epidermolysis bullosa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vascular compression of esophagus by aberrant artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vascular compression of esophagus by aberrant artery Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Vascular compression of esophagus by aberrant artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple café-au-lait macules due to neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Multiple café-au-lait macules due to neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Multiple café-au-lait macules due to neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Reduktion af hypothalamusanomali Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Reduktion af hypothalamusanomali Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Tracheal origin of right upper lobe bronchus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tracheal origin of right upper lobe bronchus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Alstrom syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Amyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Genetic defect of hair shaft (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital hypertrophy of retinal pigment epithelium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of fallopian tube (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital mallet toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transposition of intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of large intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Uterus cordiformis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital dilatation of atrium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Kartagener syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral renal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral renal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital subluxation of carpus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital subluxation of carpus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Brachymegalodactyly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachymegalodactyly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft mandible Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete situs inversus with dextrocardia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete situs inversus with dextrocardia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thanatophoric dysplasia, type 2 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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