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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
40644015 Congenital absence en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
40648017 Congenital aplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis 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 Only initial character 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 Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Renal agenesis (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ureter Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of muscle or tendon NOS Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Poland anomaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of alisphenoid bone Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of forearm with hand AND fingers Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of skin on scalp Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urethra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urinary bladder Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of quadriceps muscle (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monorchism Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric caudal centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric lumbar centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric thoracic centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monophthalmos (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra - balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemianencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra - unbalanced (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric cervical centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sacral hemivertebra (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric caudal centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric thoracic centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric cervical centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra - unbalanced (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra- balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra - balanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monophthalmos (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemianencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sacral hemivertebra (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra - unbalanced Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Roberts-SC phocomelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemicentric lumbar centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hemivertebra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital aplasia of odontoid process (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital aplasia of odontoid process (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tricuspid valve primary chords absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anorectal agenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of tricuspid papillary muscle (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent tricuspid leaflet Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Right ventricular outflow tract absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of pulmonary valve cusp (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of primary mitral chordae tendinae (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of mitral chordae tendinae (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with non-confluent pulmonary arteries Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent venous duct with direct connection of umbilical vein to right atrium Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with confluent pulmonary arteries Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary atresia with absent pulmonary artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary trunk absent with absent right pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ventricular septal defect with malaligned outlet septum and overriding truncal valve (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary trunk absent with absent left pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Left atrial appendage absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrial appendage absent (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent pulmonary trunk (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Absent aortic valve cusp (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Single inlet ventricle with absent atrioventricular connection Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent ductus venosus (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete phocomelia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk absent with absent pulmonary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of upper limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome de Di George Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
syndrome de Di George Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Ascending aorta absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 7
22q11 microdeletion with complete DiGeorge sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoacardia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Foetal anencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
SOX2 anophthalmia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3

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