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
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Some
Developmental anomaly	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

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

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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