21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Port-wine stain with oculocutaneous melanosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supradiaphragmatic total anomalous pulmonary venous return	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Discontinuous pulmonary arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cheilognathoschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Autosomal dominant lamellar ichthyosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
dobbelt arcus aortae med unilateral hypoplasi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital onychauxis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Total anomalous pulmonary venous connection of intracardiac type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous course of coronary artery posterior to pulmonary trunk and aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malposition of superior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous course of coronary artery posterior to aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Common truncus arteriosus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cavernous lymphangioma of skin	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ichthyosis hystrix med døvhed	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital vascular malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bulløs iktyose	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interruption of aortic arch distal to subclavian artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Retrosternal thyroid gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Synophrys	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Median mandibular cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent vertical vein	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Inherited cutis laxa	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Nasal encephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Deep vein aplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital systemic venous atrium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of nasal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Scimitar syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Common arterial trunk and separate origin of pulmonary arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Anomalies of the aorta excluding coarction	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery supplying both lungs (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Bifid nail	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pulmonary venous confluence remote from left atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Low anorectal malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Systemic to pulmonary collateral artery from abdominal aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
X-bundet recessiv iktyose	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Annular pancreas	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malposition of the thyroid gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lumpy scalp-syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Occipital dysplasia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital ichthyosis of skin	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous pulmonary venous drainage	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical aortic arch	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of inferior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pulmonary vein confluence (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Common arterial trunk with pulmonary origin from truncal valve sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Incomplete ossification of presphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Partial anomalous pulmonary venous connection of entire right lung (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interrupted aortic arch between left common carotid and brachiocephalic artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double barrel dual coronary artery orifices within aortic sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery supplying entire right lung (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cutaneous vascular malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interruption of aortic arch between left common carotid artery and right common carotid artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Left superior vena cava persisting to coronary sinus and then to right sided atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous portal vein termination	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Multiple dysplasia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of ductus arteriosus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pseudocoarctation of aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dermatoglyphs - skin lines	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent common pulmonary vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Total anomalous pulmonary venous connection of supracardiac type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of supraoccipital bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Nevus comedonicus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Tetralogy of Fallot with absent pulmonary valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Mixed vascular malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anosmia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interruption of aortic arch between subclavian artery and common carotid artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vomero-premaxillary faciosynostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Generalised essential telangiectasia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Kongenitte morfologiske hårforstyrrelser	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Craniolacunia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital koilonychia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
ikke-bulløs iktyosiform erytrodermi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lateral developmental cyst of jaw	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interrupted aortic arch distal to left subclavian artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Coarctation of pulmonary artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pachydermoperiostosis of nail	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Peutz-Jeghers syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital web of esophagus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cobb's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lamellar ichthyosis (limited type) (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Primordial cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Systemic to pulmonary collateral artery from right renal artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistent left posterior cardinal vein	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Pulmonary hypertension in neurofibromatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Birthmark	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Raised birthmark	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Arteriovenous malformation of skin	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of parietal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistent descending vein	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supracardiac location of anomalous pulmonary venous connection to hemiazygos vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Podencefalus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Intracardiac location of anomalous pulmonary venous connection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)