21390004: Developmental anomaly (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Taenzer's hair	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of pulmonary veins	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right aortic arch and left descending aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous course of coronary artery anterior to pulmonary trunk and aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital asymmetry of jaw	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Systemic to pulmonary collateral artery connecting with artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Multiple venous malformation of skin and mucous membrane	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Right superior vena cava connecting to left atrium and right atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Non-erythrodermic lamellar ichthyosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Intracardiac location of anomalous pulmonary venous connection to coronary sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of aortic arch AND/OR descending aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left sided azygos continuation of inferior vena cava to left superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Persistent fetal circulation syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital non bullous ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of jaw	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of nasal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ichthyosis bullosa of Siemens	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Brugsch's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left superior vena cava persisting to right atrium and left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Double aortic arch with left arch dominant and atresia of right arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Anomalous origin of right ductus arteriosus from right aortic arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Transposition of pulmonary veins	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of basioccipital bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Supracardiac location of anomalous pulmonary venous connection to azygos vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Major systemic to pulmonary collateral artery supplying part of right lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Bilateral ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Exencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Incomplete ossification of parietal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Embryonic cyst of mesentery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Beaded hair	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Inferior cava to left of spine with right descending aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pulmonary venous confluence in vertical orientation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Double eyebrow	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of nail	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Abnormal palmar creases	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Ichthyosis hystrix gravior of Rheydt	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dextroposition of aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital disease and abnormality of heart, thoracic aorta and pericardium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Major systemic to pulmonary collateral artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Partial anomalous pulmonary venous connection of entire left lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cutis laxa, autosomal recessive	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hemifacial microsomia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hereditary neurocutaneous angiomata	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dysgenesis of the cerebellum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Systemic to pulmonary collateral artery from descending thoracic aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of maxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ichthyosis linearis circumflexa	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous pulmonary venous drainage to coronary sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Porokeratosis of Mibelli	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Anomalous insertion of ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Infracardiac location of anomalous pulmonary venous connection	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Vein of Galen malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of endocrine gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital ball and socket ankle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Tetralogy of Fallot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Retroesophageal pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of hair	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of sphenoid wing	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Incomplete ossification of frontal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Double aortic arch with left arch dominant and coarctation of right arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Supracardiac location of anomalous pulmonary venous connection to right superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Retroaortic brachiocephalic vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ectopic thyroid tissue	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of mandible	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Fronto-naso-ethmoidal dysostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous course of coronary artery across right ventricular outflow tract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital cerebral hernia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
High anorectal malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Segmental neurofibromatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cleft mandible	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Double aortic arch with left arch dominant and right arch patent	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Capillary fragility abnormality	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Stenosis of systemic to pulmonary artery collateral artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Bullous ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Interparietal craniosynostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Supracardiac location of anomalous pulmonary venous connection to left superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left superior caval vein persisting to coronary sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bilateral ductus arteriosus with patent left ductus arteriosus and closed right ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Nevus anemicus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of back	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Acephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Localized congenital skull defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Encephalocele of vertex	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Port-wine stain of skin	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Major aortopulmonary collateral artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Genetic defect of hair shaft	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of tympanic anulus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right aortic arch branching pattern	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of small intestine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Port-wine stain with oculocutaneous melanosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2

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