24216005: Congenital absence (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Absence (morphologic abnormality)\Aplasia\Congenital absence

\Growth alteration\Maturation defect\Aplasia\Congenital absence

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

2615451000005119 agenesi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit anomali	false	Inferred relationship	Some
Congenital absence	Is a	Kongenit malformation	false	Inferred relationship	Some
Congenital absence	Is a	Absence (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Renal agenesis	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of ureter	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
kongenit manglende muskel eller sene, ikke nærmere specificeret	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital absence of alisphenoid bone	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Kongenit manglende underarm med hånd OG fingre	Associated morphology	False	Congenital absence	Inferred relationship	Some	3
Congenital absence of skin on scalp	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of urethra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of urinary bladder	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital absence of quadriceps muscle (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Monorchism	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk lændehvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i brysthvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Monophthalmos	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra- balanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Lumbar hemivertebra - balanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hemianencephaly	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Lumbar hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra- balanced (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Lumbar hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i halshvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Sacral hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i brysthvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk centrum i halshvirvels corpus vertebrae	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Phocomelia	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra- balanced (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra- balanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Lumbar hemivertebra - balanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Monophthalmos	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hemianencephaly	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Sacral hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Lumbar hemivertebra - unbalanced	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Thoracic hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Congenital hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Cervical hemivertebra	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
hemicentrisk lændehvirvels corpus vertebrae	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Congenital aplasia of odontoid process (disorder)	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
Congenital absence of tricuspid papillary muscle (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder)	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absence of pulmonary valve cusp (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absence of primary mitral chordae tendinae (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absence of mitral chordae tendinae (disorder)	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 (disorder)	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder)	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Pulmonary trunk absent with absent right pulmonary artery (disorder)	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder)	Associated morphology	False	Congenital absence	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	Inferred relationship	Some	2
Pulmonary trunk absent with absent left pulmonary artery (disorder)	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 (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder)	Associated morphology	False	Congenital absence	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	Inferred relationship	Some	1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Absent aortic valve cusp (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
Single inlet ventricle with absent atrioventricular connection (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	1
Absent ductus venosus (disorder)	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
Congenital absence of upper limb	Associated morphology	False	Congenital absence	Inferred relationship	Some	2
DiGeorges syndrom	Associated morphology	False	Congenital absence	Inferred relationship	Some	4
DiGeorges syndrom	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
Fetal anencephaly (disorder)	Associated morphology	False	Congenital absence	Inferred relationship	Some	3
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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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
2615451000005119	agenesi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)