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782173000: Agenesis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3752699013 Agenesis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752700014 Agenesis en Synonym (core metadata concept) 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
Agenesis (morphologic abnormality) Is a Aplasia true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of pulmonary trunk with non-confluent pulmonary arteries Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lacrimal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital fibular deficiency type I Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital fibular deficiency type II Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of lower vagina Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital fibular deficiency type III Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of artery Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of cerebrum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of mandible Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Hemispheric cerebral agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fibula Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of first metatarsal (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Anophthalmos Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of right lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital aphakia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral acheiria (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Bilateral acheiria (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urinary bladder Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of nasal cartilages Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Unilobar lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of rib Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Sacral agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Lumbosacral agenesis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of nerve (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of arch of cervical vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pulmonary trunk with confluent pulmonary arteries (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of alisphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of hand (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of exoccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of pulmonary artery Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of ovary Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of right pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of tibia Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right hand Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of hepatic ducts Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of stomach Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bronchus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of lower limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of thumb Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Acephalothorax Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Acephalothorax Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of maxilla Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 5
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of esophagus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of supraoccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of external ear Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of palatine bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Congenital absence of bile duct Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Acephaly Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of larynx (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of nasolacrimal duct Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of epididymis Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of left kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of arch of thoracic vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of auricle with stenosis of auditory canal Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 3
Right renal agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of scapula Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left hand Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
absence de tronc pulmonaire Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of sternebra Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lung Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of left lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of talus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of premaxilla Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of ureter Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lobe of lung Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Renal agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Aicardi's syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of clavicle Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of spleen Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vomer Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of corpus callosum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Anorectal agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of genital tubercle Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A genetic syndrome characterized by the absence of all four limbs. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A genetic syndrome characterized by the absence of all four limbs. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
A genetic syndrome characterized by the absence of all four limbs. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
A genetic syndrome characterized by the absence of all four limbs. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of aorta Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nose Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Hemispheric cerebellar agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of upper limb (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ulna Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of cerebellum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pancreas (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of cranial vault (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of radius Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1

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