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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
Congenital anomalous tracheobronchial branching (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bicuspid aortic valve-associated aortopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital atresia of bilateral anterior nares (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital atresia of bilateral anterior nares (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
polykystose hépatique autosomique dominante Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Autosomal recessive epidermolytic ichthyosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal recessive Robinow syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Autosomal recessive Robinow syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Autosomal recessive Robinow syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Autosomal recessive Robinow syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bilateral frontal polymicrogyria Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral generalized polymicrogyria (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral parasagittal parieto-occipital polymicrogyria Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
46,XX disorder of sex development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Epiblepharon of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiblepharon of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral euryblepharon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral euryblepharon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coralliform cataract (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital hallux valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital hallux valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital vertical talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital vertical talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital vertical talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral congenital vertical talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Between 71% and 99% stenosis according to the Cotton-Myer scale. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral distal interphalangeal joint symphalangism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital symblepharon of bilateral conjunctivae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital symblepharon of bilateral conjunctivae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital symblepharon of bilateral conjunctivae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital symblepharon of bilateral conjunctivae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
100% stenosis according to the Cotton-Myer scale. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of the fifth digit, fully developed with bone and neural tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of the fifth digit, fully developed with bone and neural tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital duplication of the fifth digit, rudimentary, non-functioning or soft tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of the fifth digit, rudimentary, non-functioning or soft tissue. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral postaxial polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral postaxial polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral polydactyly of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral polydactyly of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral macrodactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral macrodactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Polydactyly of bilateral triphalangeal thumbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Polydactyly of bilateral triphalangeal thumbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral partial cryptophthalmos Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral partial cryptophthalmos Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Macrodactyly of bilateral hands Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Macrodactyly of bilateral hands Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital metatarsus valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital metatarsus valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Incomplete congenital pyloric antral membrane (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malrotation of large intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of lymphatic system of cervicofacial region (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital megacalycosis of bilateral kidneys Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral central polydactyly of fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral central polydactyly of fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous fistula of umbilical blood vessels (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of umbilical cord (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital epibulbar choristoma of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital epibulbar choristoma of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital duplication of gallbladder type 2 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ectropion of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ectropion of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital diverticulum of large intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Bilateral Madelung deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Bilateral choanal atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral central polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral central polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital duplication of gallbladder type 1 results from a split primordium, which can be septated, bilobed or Y-shaped. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Less than 50% stenosis according to the Cotton-Myer scale. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of the tracheobronchial tree (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Between 51% and 70% stenosis according to the Cotton-Myer scale. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary airway malformation type 4 originates in the acinar structures of the lung. It consists of peripheral thin-walled cysts, typically affecting a single lobe. There is a strong association with type 1 pleuropulmonary blastoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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