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308490002: Pathological developmental process (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym Active Case insensitive SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Case insensitive 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
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
13q12.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Epidermolysis bullosa simplex due to exophilin 5 deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Epidermolysis bullosa simplex due to BP230 deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hypoplastic left heart syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process False Pathological developmental process Inferred relationship Some 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process False Pathological developmental process Inferred relationship Some 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Pathological process False Pathological developmental process Inferred relationship Some 1
Ocular albinism with congenital sensorineural deafness Pathological process False Pathological developmental process Inferred relationship Some 3
Ocular albinism with congenital sensorineural deafness Pathological process False Pathological developmental process Inferred relationship Some 2
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Incomplete ossification of skull Pathological process True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of ischium Pathological process True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of vertebra Pathological process True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of pubis Pathological process True Pathological developmental process Inferred relationship Some 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Complete transposition of great vessels Pathological process True Pathological developmental process Inferred relationship Some 3
Lethal occipital encephalocele, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Lethal occipital encephalocele, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Lethal occipital encephalocele, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Lethal occipital encephalocele, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Distal Xq28 microduplication syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hutchinson's triad Pathological process True Pathological developmental process Inferred relationship Some 3
Tapered teeth Pathological process False Pathological developmental process Inferred relationship Some 2
Developmental anomaly of root of tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Robinow syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Robinow syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Origin of innominate artery from left side of aortic arch Pathological process False Pathological developmental process Inferred relationship Some 3
Tuberculate supernumerary tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Left ventricular-right atrial communication Pathological process False Pathological developmental process Inferred relationship Some 3
Developmental abnormality of tooth size and form Pathological process False Pathological developmental process Inferred relationship Some 1
Single supernumerary tooth Pathological process False Pathological developmental process Inferred relationship Some 1
Type II arteriovenous malformation of spinal cord Pathological process True Pathological developmental process Inferred relationship Some 2
Type II arteriovenous malformation of spinal cord Pathological process True Pathological developmental process Inferred relationship Some 1
Type III arteriovenous malformation of spinal cord Pathological process True Pathological developmental process Inferred relationship Some 1
Type III arteriovenous malformation of spinal cord Pathological process True Pathological developmental process Inferred relationship Some 2
Developmental abnormality of cusp of tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental anomaly of crown and root formation Pathological process True Pathological developmental process Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Pathological process False Pathological developmental process Inferred relationship Some 4
Ehlers-Danlos syndrome, type 3 Pathological process True Pathological developmental process Inferred relationship Some 4
Developmental anomaly of tooth Pathological process False Pathological developmental process Inferred relationship Some 1
Holoanencephaly Pathological process True Pathological developmental process Inferred relationship Some 2
Acrodysplasia scoliosis Pathological process True Pathological developmental process Inferred relationship Some 1
Acrodysplasia scoliosis Pathological process True Pathological developmental process Inferred relationship Some 3
Acrodysplasia scoliosis Pathological process True Pathological developmental process Inferred relationship Some 2
Chudley McCullough syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital split right ear lobe Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital malformation of external ears Pathological process True Pathological developmental process Inferred relationship Some 2
Bilateral congenital malformation of external ears Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital atresia of external ears Pathological process True Pathological developmental process Inferred relationship Some 2
Bilateral congenital atresia of external ears Pathological process True Pathological developmental process Inferred relationship Some 1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Craniofacial dysplasia osteopenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Genitopalatocardiac syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Genitopalatocardiac syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Genitopalatocardiac syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Flat face, microstomia, ear anomaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital split left ear lobe Pathological process True Pathological developmental process Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital erosive and vesicular dermatosis Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital erosive and vesicular dermatosis Pathological process True Pathological developmental process Inferred relationship Some 2
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Spondylo-megaepiphyseal-metaphyseal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Pitt Hopkins-like syndrome Pathological process False Pathological developmental process Inferred relationship Some 1

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