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24216005: Congenital absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name 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
Congenital absence (morphologic abnormality) Is a Aplasia true Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Congenital anomaly false Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Congenital malformation false Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Renal agenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ureter Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of muscle or tendon NOS Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Poland anomaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of alisphenoid bone Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of forearm with hand AND fingers Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of skin on scalp Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urethra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urinary bladder Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of quadriceps muscle (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Monorchism Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric caudal centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric lumbar centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric thoracic centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Monophthalmos Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra - balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemianencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra - unbalanced (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric cervical centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Sacral hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric caudal centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric thoracic centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric cervical centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Phocomelia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra - unbalanced (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra - balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Monophthalmos Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemianencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Sacral hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Thoracic hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Roberts-SC phocomelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cervical hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemicentric lumbar centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Lumbar hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital aplasia of odontoid process (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Congenital aplasia of odontoid process (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Tricuspid valve primary chords absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Anorectal agenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tricuspid papillary muscle (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent tricuspid leaflet Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Right ventricular outflow tract absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absence of pulmonary valve cusp (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absence of primary mitral chordae tendinae (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absence of mitral chordae tendinae (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Pulmonary trunk absent with non-confluent pulmonary arteries Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Phocomelia of upper limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to right atrium (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Pulmonary trunk absent with confluent pulmonary arteries Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Pulmonary atresia with absent pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Pulmonary trunk absent with absent right pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Pulmonary trunk absent with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Left atrial appendage absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Right atrial appendage absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent pulmonary trunk (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Absent aortic valve cusp (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Single inlet ventricle with absent atrioventricular connection (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent ductus venosus (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Complete phocomelia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Pulmonary trunk absent with absent pulmonary artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 5
Ascending aorta absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 7
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 8
Pseudoacardia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Fetal anencephaly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
SOX2 anophthalmia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3

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