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
Persistent left superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of epidermal appendages	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of intestinal tract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of integument	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital splenorenal shunt	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Double aortic arch with right arch dominant and coarctation of left arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Inferior vena cava to left of spine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Porcupine man	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bilateral patent ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Hereditary vascular fragility	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital flat back deformity	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Incomplete ossification of squamosal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital pigmentary skin anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital hypertrichosis lanuginosa	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hypertrichosis with congenital macrogingivae	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Systemic to pulmonary collateral artery from right brachiocephalic artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of basisphenoid bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Embryonic cyst	Is a	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Hypotrichosis with keratosis pilaris and lentiginosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Supracardiac location of anomalous pulmonary venous connection	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pulmonary venous confluence in horizontal orientation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of alisphenoid bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of interparietal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous pulmonary venous connection of mixed type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Multiple café-au-lait macules due to neurofibromatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Midline cervical cleft	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Bayonet hair	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Autosomal recessive keratitis-ichthyosis-deafness syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Frontoethmoidal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Interrupted aortic arch between left subclavian and left common carotid artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Scimitar syndrome with additional anomalous pulmonary venous connection	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital vascular malformation of lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of adrenal gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Circumflex runs posterior to aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of basioccipital bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pili annulati	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Craniofacial microsomia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Neurocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bilateral superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of palatine bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ichthyosis hystrix Bäfverstedt type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left superior caval vein persisting to left sided atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Kommerell's diverticulum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of lower alimentary tract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bipartite ossification of interparietal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Common arterial trunk with crossed over pulmonary arteries	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Axillary freckling due to neurofibromatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Anomalous pulmonary venous drainage to superior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital enlargement of fontanel	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Cyst of mesentery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Nasofrontal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Venous valvular anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ichthyosis hystrix of Curth-Macklin	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cervical thyroid remnant	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cutaneous syndrome with ichthyosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Preauricular cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Venous-lymphatic malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital esophageal ring	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Hereditary benign intraepithelial dyskeratosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Lack of ossification of frontal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Interrupted aortic arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous insertion of ductus arteriosus into distal left pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Vascular neurocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Sturge-Weber syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Localized bullous ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Common arterial trunk and common origin of pulmonary arteries	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Double aortic arch with right arch dominant and atresia of left arch	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Splenoportal vascular anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of presphenoid bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Naso-palatine duct cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Pentalogy of Fallot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Systemic to pulmonary collateral artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Interruption of coronary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Pulmonary venous confluence in direct proximity to left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of maxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Double aortic arch with right arch dominant and left arch patent	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hypotrichia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Potter's facies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Incontinentia pigmenti syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cutis laxa, autosomal dominant	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right superior vena cava connecting to coronary sinus and then to left sided atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Aortic arch centrally descending	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cebocephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pulmonary artery connecting to coronary artery via collateral artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous insertion of ductus arteriosus into right pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of face bones	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Parietal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Jaw congenital deformities	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Esophageal atresia, stenosis and fistula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right superior vena cava connecting to coronary sinus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Atypical ichthyosis vulgaris with hypogonadism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right ductus arteriosus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1

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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