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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
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
LIMS2-related limb girdle muscular dystrophy Pathological process True Pathological developmental process Inferred relationship Some 1
Familial patent arterial duct Pathological process True Pathological developmental process Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 2
DYRK1A-related intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Diffuse pulmonary lymphangiomatosis 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 6
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 7
Ocular albinism with congenital sensorineural deafness Pathological process False Pathological developmental process Inferred relationship Some 1
Congenital deficiency of cochlear nerve Pathological process True Pathological developmental process Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
GNB5-related intellectual disability, cardiac arrhythmia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Growth delay, intellectual disability, hepatopathy syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Infantile inflammatory bowel disease with neurological involvement Pathological process True Pathological developmental process Inferred relationship Some 3
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Gabriele-de Vries syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to iodine deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to iron deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to micronutrient deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to nutritional stunting Pathological process True Pathological developmental process Inferred relationship Some 1
Non-specific syndromic intellectual disability Pathological process True Pathological developmental process Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Pathological process True Pathological developmental process Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Stromme syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Witteveen Kolk syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Agenesis of scrotum Pathological process True Pathological developmental process Inferred relationship Some 1
Sugarman brachydactyly Pathological process True Pathological developmental process Inferred relationship Some 1
Sugarman brachydactyly Pathological process True Pathological developmental process Inferred relationship Some 2
Sugarman brachydactyly Pathological process True Pathological developmental process Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to RTTN deficiency Pathological process True Pathological developmental process Inferred relationship Some 1
Microcephalic cortical malformations, short stature due to RTTN deficiency Pathological process True Pathological developmental process Inferred relationship Some 2
Intellectual disability, epilepsy, extrapyramidal syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Tubulinopathy-associated dysgyria Pathological process True Pathological developmental process Inferred relationship Some 1
Tubulinopathy-associated dysgyria Pathological process True Pathological developmental process Inferred relationship Some 2
Tubulinopathy-associated dysgyria Pathological process True Pathological developmental process Inferred relationship Some 3
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leucodystrophy Pathological process True Pathological developmental process Inferred relationship Some 3
Seizures, scoliosis, macrocephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Spastic paraplegia, severe developmental delay, epilepsy syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone Pathological process True Pathological developmental process Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital lordosis deformity of spine Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine Pathological process True Pathological developmental process Inferred relationship Some 2
Unilateral multicystic renal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Unilateral multicystic renal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 2
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Osteogenesis imperfecta type IIC Pathological process True Pathological developmental process Inferred relationship Some 1
Hereditary haemorrhagic telangiectasia of gingiva Pathological process True Pathological developmental process Inferred relationship Some 1
Hereditary haemorrhagic telangiectasia of gingiva Pathological process True Pathological developmental process Inferred relationship Some 2
Osteogenesis imperfecta, type IV B Pathological process True Pathological developmental process Inferred relationship Some 3
Melorheostosis with osteopoikilosis Pathological process True Pathological developmental process Inferred relationship Some 1
Melorheostosis with osteopoikilosis Pathological process True Pathological developmental process Inferred relationship Some 2
Hallermann Streiff like syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hallermann Streiff like syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital ichthyosis, microcephalus, tetraplegia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Sanjad Sakati syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Posterior meningocele Pathological process True Pathological developmental process Inferred relationship Some 1
Posterior meningocele Pathological process True Pathological developmental process Inferred relationship Some 2
Posterior meningocele Pathological process True Pathological developmental process Inferred relationship Some 3
Microform holoprosencephaly Pathological process True Pathological developmental process Inferred relationship Some 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Autosomal recessive dysgenesis of anterior segment of eye Pathological process True Pathological developmental process Inferred relationship Some 1
Familial cavitary optic disc anomaly Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital portosystemic shunt Pathological process False Pathological developmental process Inferred relationship Some 1
Congenital portosystemic shunt Pathological process False Pathological developmental process Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Pathological process True Pathological developmental process Inferred relationship Some 2

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