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24216005: Congenital absence (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
40644015 Congenital absence en Synonym Active Case insensitive SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Some
Congenital absence Is a Congenital anomaly false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Roberts-SC phocomelia syndrome Associated morphology False Congenital absence Inferred relationship Some 1
Cervical hemivertebra Associated morphology False Congenital absence Inferred relationship Some 1
Hemicentric lumbar centrum Associated morphology False Congenital absence Inferred relationship Some 1
Lumbar hemivertebra Associated morphology False Congenital absence Inferred relationship Some 1
Congenital aplasia of odontoid process Associated morphology False Congenital absence Inferred relationship Some 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital aplasia of odontoid process Associated morphology False Congenital absence Inferred relationship Some 1
Tricuspid valve primary chords absent Associated morphology False Congenital absence Inferred relationship Some 1
Anorectal agenesis Associated morphology False Congenital absence Inferred relationship Some 1
Absent tricuspid papillary muscle Associated morphology False Congenital absence Inferred relationship Some 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve Associated morphology False Congenital absence Inferred relationship Some 1
Absent tricuspid leaflet Associated morphology False Congenital absence Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence Inferred relationship Some 3
Right ventricular outflow tract absent Associated morphology False Congenital absence Inferred relationship Some 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection Associated morphology False Congenital absence Inferred relationship Some 1
Absence of pulmonary valve cusp Associated morphology False Congenital absence Inferred relationship Some 1
Absence of primary mitral chordae tendinae Associated morphology False Congenital absence Inferred relationship Some 1
Absence of mitral chordae tendinae Associated morphology False Congenital absence Inferred relationship Some 1
Pulmonary trunk absent with non-confluent pulmonary arteries Associated morphology False Congenital absence Inferred relationship Some 1
Phocomelia of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to right atrium Associated morphology False Congenital absence Inferred relationship Some 1
Pulmonary trunk absent with confluent pulmonary arteries Associated morphology False Congenital absence Inferred relationship Some 1
Pulmonary atresia with absent pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 2
Univentricular atrioventricular connection with absent right sided atrioventricular connection Associated morphology False Congenital absence Inferred relationship Some 1
Atresia of pulmonary trunk with absent left pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Associated morphology False Congenital absence Inferred relationship Some 2
Pulmonary trunk absent with absent right pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type Associated morphology False Congenital absence Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve Associated morphology False Congenital absence Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Associated morphology False Congenital absence Inferred relationship Some 2
Pulmonary trunk absent with absent left pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
Left atrial appendage absent Associated morphology False Congenital absence Inferred relationship Some 1
Right atrial appendage absent Associated morphology False Congenital absence Inferred relationship Some 1
Absent pulmonary trunk Associated morphology False Congenital absence Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava Associated morphology False Congenital absence Inferred relationship Some 1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type Associated morphology False Congenital absence Inferred relationship Some 2
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 2
Absent aortic valve cusp Associated morphology False Congenital absence Inferred relationship Some 1
Absent venous duct with direct connection of umbilical vein to renal vein Associated morphology False Congenital absence Inferred relationship Some 2
Single inlet ventricle with absent atrioventricular connection Associated morphology False Congenital absence Inferred relationship Some 1
Absent venous duct Associated morphology False Congenital absence Inferred relationship Some 1
Complete phocomelia of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
Pulmonary trunk absent with absent pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of both forepaws and both hindpaws Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of upper limb Associated morphology False Congenital absence Inferred relationship Some 2
DiGeorge sequence Associated morphology False Congenital absence Inferred relationship Some 4
DiGeorge sequence Associated morphology False Congenital absence Inferred relationship Some 5
Ascending aorta absent Associated morphology False Congenital absence Inferred relationship Some 2
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence Inferred relationship Some 7
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence Inferred relationship Some 8
Pseudoacardia Associated morphology False Congenital absence Inferred relationship Some 2
Agenesis of punctum lacrimale Associated morphology False Congenital absence Inferred relationship Some 1
Ostium secundum type atrial septal defect Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of jejunum Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of ileum Associated morphology False Congenital absence Inferred relationship Some 1
Congenital atresia of appendix Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of hepatic ducts Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia of penis Associated morphology False Congenital absence Inferred relationship Some 1
Partial absence of radius Associated morphology False Congenital absence Inferred relationship Some 2
Partial absence of radius Associated morphology False Congenital absence Inferred relationship Some 1
Partial defect of ulna Associated morphology False Congenital absence Inferred relationship Some 1
Partial defect of ulna Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest phalangeal level first ray Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest phalangeal level second ray Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest phalangeal level third ray Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest phalangeal level fourth ray Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest phalangeal level fifth ray Associated morphology False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type I Associated morphology False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type I Associated morphology False Congenital absence Inferred relationship Some 2
Congenital tibial deficiency type II Associated morphology False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type II Associated morphology False Congenital absence Inferred relationship Some 3
Congenital tibial deficiency type III Associated morphology False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type III Associated morphology False Congenital absence Inferred relationship Some 3
Congenital fibular deficiency type I Associated morphology False Congenital absence Inferred relationship Some 1
Congenital fibular deficiency type I Associated morphology False Congenital absence Inferred relationship Some 8
Congenital fibular deficiency type II Associated morphology False Congenital absence Inferred relationship Some 1
Congenital fibular deficiency type II Associated morphology False Congenital absence Inferred relationship Some 8
Congenital fibular deficiency type III Associated morphology False Congenital absence Inferred relationship Some 1
Congenital fibular deficiency type III Associated morphology False Congenital absence Inferred relationship Some 8
Agenesis of multiple tarsal bones Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of multiple tarsal bones Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of 1st metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of 1st metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of fifth metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of fifth metatarsal Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of fourth and fifth metatarsals Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of fourth and fifth metatarsals Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of great toe Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of fifth toe Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of fourth and fifth toes Associated morphology False Congenital absence Inferred relationship Some 1
Aplasia of muscle Associated morphology False Congenital absence Inferred relationship Some 1
Congenital localised alopecia Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of pituitary gland Associated morphology False Congenital absence Inferred relationship Some 1
Aniridia type 1 Associated morphology False Congenital absence Inferred relationship Some 1
Aniridia type 2 Associated morphology False Congenital absence Inferred relationship Some 1
Fetal anencephaly Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of left pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 1
SOX2 anophthalmia syndrome Associated morphology False Congenital absence Inferred relationship Some 3
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence Inferred relationship Some 3

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Reference Sets

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