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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
Hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tuberous sclerosis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Tuberous sclerosis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hydromyelocele med hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Acral Darier's disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital extrahepatic portal-systemic shunt Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Macrodactyly of thumb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cheilognathoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cheilognathoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anakatadidymus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anakatadidymus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Midline cervical cleft (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Osseous syndactyly lesser toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osseous syndactyly lesser toes Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of left anterior descending from right coronary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of pubis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cephalothoracopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cephalothoracopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of breast with absent nipple Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Ectopic pancreas in duodenum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic pancreas in duodenum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Crowding of anterior mandibular teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crowding of anterior mandibular teeth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cyst of hydatid of Morgagni Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microphakia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Constriction ring of upper limb with lymphedema Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Constriction ring of upper limb with lymphedema Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
kongenit uterusabnormitet, der komplicerer post partum-behandling og -pleje, barn født under tidligere behandling Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Small intestine atresia and stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Small intestine atresia and stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia of rectum with fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atresia of rectum with fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Septoparietal trabeculations Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ovotestis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital misalignment of sternebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cataract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with nail defect Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ectodermal dysplasia with nail defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Proximal interphalangeal joint symphalangism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atresia of lower vagina (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of interparietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
mellemøreanomali, eksklusive ossiklerne Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital koilonychia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital misalignment of palate rugae Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Iniencephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Iniencephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Iniencephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of spinal cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital commissural pits Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dilatation of tricuspid annulus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Dilatation of tricuspid annulus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ear auricle and external auditory canal absent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ear auricle and external auditory canal absent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Penile mid-shaft hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Penile mid-shaft hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bridging bronchus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Combined malformation of central nervous system and skeletal muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Combined malformation of central nervous system and skeletal muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Miller Dieker syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of pinna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syringomyelobulbi Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Elephantiasis neurofibromatosa (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Elephantiasis neurofibromatosa (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Elephantiasis neurofibromatosa (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Subaortic stenosis due to common atrioventricular valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Triphalangeal thumb and polysyndactyly syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Triphalangeal thumb and polysyndactyly syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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