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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
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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Pulmonary trunk absent with non-confluent pulmonary arteries Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lacrimal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibular deficiency type I Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibular deficiency type II Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of lower vagina (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibular deficiency type III Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of cerebrum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of mandible Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemispheric cerebral agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of fibula Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of first metatarsal (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anophthalmos Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of right lung (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital aphakia (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral acheiria (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral acheiria (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urinary bladder Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of nasal cartilages Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unilobar lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of rib Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of limb Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sacral agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbosacral agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of nerve Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of arch of cervical vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with confluent pulmonary arteries Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of alisphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of hand (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of exoccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of pulmonary artery Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent left pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of ovary Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent right pulmonary artery (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of tibia Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right hand (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of hepatic ducts Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of stomach Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of bronchus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of lower limb (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of thumb Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acephalothorax Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalothorax Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of maxilla Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of esophagus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of supraoccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Congenital absence of external ear Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of palatine bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Congenital absence of bile duct (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acephaly Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of larynx Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of nasolacrimal duct Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of epididymis Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of left kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of arch of thoracic vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of auricle with stenosis of auditory canal Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of right kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of scapula Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left hand Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent pulmonary trunk (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of sternebra (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lung Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of left lung Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of talus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of premaxilla (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of ureter Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of lobe of lung Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Renal agenesis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aicardi's syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of clavicle Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of spleen Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vomer Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anorectal agenesis Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of genital tubercle Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetra-amelia syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetra-amelia syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Tetra-amelia syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Tetra-amelia syndrome Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of aorta (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of nose Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemispheric cerebellar agenesis (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of upper limb (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ulna (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of cerebellum (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of pancreas Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of cranial vault Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of radius Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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