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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
2p21 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Tetrasomy 12p syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Tetrasomy 12p syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Complete trisomy 18 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Pathological process True Pathological developmental process Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Pathological process True Pathological developmental process Inferred relationship Some 1
Developmental absence of tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 8 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 8 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Mosaic trisomy 12 Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 12 Pathological process True Pathological developmental process Inferred relationship Some 2
Mosaic trisomy 16 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 16 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Mosaic trisomy 17 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 17 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Mosaic trisomy 2 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 2 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Mosaic trisomy 3 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Mosaic trisomy 3 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus Pathological process True Pathological developmental process Inferred relationship Some 5
13q partial monosomy syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
13q partial monosomy syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Monosomy 13q14 syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Monosomy 13q14 syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Distal monosomy 13q syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Distal monosomy 13q syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Monosomy 13q34 Pathological process True Pathological developmental process Inferred relationship Some 1
Monosomy 13q34 Pathological process True Pathological developmental process Inferred relationship Some 2
13q12.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
13q12.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Peg-shaped tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Bilobate placenta Pathological process True Pathological developmental process Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Pathological process True Pathological developmental process Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Pathological process True Pathological developmental process Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Pathological process True Pathological developmental process Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Pathological process True Pathological developmental process Inferred relationship Some 2
Nonfenestrated interatrial communication within oval fossa Pathological process True Pathological developmental process Inferred relationship Some 1
Palmoplantar hyperkeratosis sclerodactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Palmoplantar hyperkeratosis sclerodactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Fetal mediastinal shift to right Pathological process True Pathological developmental process Inferred relationship Some 1
Fetal mediastinal shift to left Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked oligodontia Pathological process True Pathological developmental process Inferred relationship Some 3
Camptodactyly of finger Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital absence of one tooth Pathological process True Pathological developmental process Inferred relationship Some 2
Split spinal cord malformation type I Pathological process True Pathological developmental process Inferred relationship Some 1
Split spinal cord malformation type I Pathological process True Pathological developmental process Inferred relationship Some 2
Split spinal cord malformation type I Pathological process True Pathological developmental process Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process True Pathological developmental process Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process True Pathological developmental process Inferred relationship Some 4
Mayer Rokitansky Küster Hauser syndrome type 1 Pathological process True Pathological developmental process Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome type 1 Pathological process True Pathological developmental process Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome type 1 Pathological process True Pathological developmental process Inferred relationship Some 3
Symphalangism Cushing type Pathological process True Pathological developmental process Inferred relationship Some 1
XK aprosencephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Malformation of teeth Pathological process True Pathological developmental process Inferred relationship Some 1
Post-traumatic epiphyseal arrest Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital accessory tissue of tricuspid valve Pathological process True Pathological developmental process Inferred relationship Some 1
Hydrocephalus with anomaly of aqueduct of Sylvius Pathological process True Pathological developmental process Inferred relationship Some 3
Chondrodysplasia punctata, X-linked dominant type Pathological process True Pathological developmental process Inferred relationship Some 2
Syndromic X-linked intellectual disability due to JARID1C mutation Pathological process True Pathological developmental process Inferred relationship Some 1
N syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Generalised peeling skin syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Hereditary skin peeling syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Acral peeling skin syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Non syndromic dextrocardia Pathological process True Pathological developmental process Inferred relationship Some 1
Non syndromic camptodactyly of fingers Pathological process True Pathological developmental process Inferred relationship Some 1
Gemination of tooth Pathological process True Pathological developmental process Inferred relationship Some 1
Foreign accent syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Agenesis of cervical vertebra Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bone of forearm Pathological process True Pathological developmental process Inferred relationship Some 1
Arteriovenous malformation of duodenum Pathological process False Pathological developmental process Inferred relationship Some 877475043
Hemimaxillofacial dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Pathological process True Pathological developmental process Inferred relationship Some 6
MARCH syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
MARCH syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation Pathological process True Pathological developmental process Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation Pathological process True Pathological developmental process Inferred relationship Some 2
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
LRP5-related primary osteoporosis Pathological process True Pathological developmental process Inferred relationship Some 1
Craniofrontonasal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 2
Deafness-dystonia-optic neuronopathy syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Ocular anomalies, axonal neuropathy, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1

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Reference Sets

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