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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
Multiple neurofibromas in neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Multiple neurofibromas in neurofibromatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Autosomal dominant ichthyosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Diffuse hypoplasia of right ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of palatine bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital perineal groove (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Midline fissured, notched and cleft nose Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta, pigmented hypomaturation type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dilatation of urinary bladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Low assimilation pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Low assimilation pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Omocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Omocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of optic disc (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Divided left atrium with some pulmonary veins to proximal chamber draining to right atrium and others connecting anomalously (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
First arch syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left sided atrium connecting to ventricle of indeterminate morphology Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of adrenal gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital iodine deficiency syndrome of mixed type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bile ducts Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retinal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Discordant atrioventricular connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Enamel-renal syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Rud's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bent bone dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Accessory salivary gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Arteriovenous malformation of precerebral vessels Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of pleural folds Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic glial tissue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachydactyly-all 3 phalanges Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crossed ectopia of kidney with fusion anomaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absence of pulmonary valve cusp (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peutz-Jeghers syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Peutz-Jeghers syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Peutz-Jeghers syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Complete duplication of urethra (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Endemic cretinism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malrotation of cecum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypodontia and nail dysgenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypodontia and nail dysgenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Hypodontia and nail dysgenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hypodontia and nail dysgenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Radicular dens invaginatus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radicular dens invaginatus (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital absence of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cervical, vaginal and external female genital anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Myeloschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Myeloschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myeloschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Central incomplete cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Central incomplete cleft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Solitary ventricle of indeterminate morphology (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bifid epiglottis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cerebellar cortical dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cerebellar cortical dysplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Dysgenesis of the brainstem Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hutchinson's teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Transverse deficiency lower limb - through tibia/fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital tibial deficiency type II Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple anterior segment anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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