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
Intracardiac location of anomalous pulmonary venous connection	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital maxillary asymmetry	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of palatine bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital wooly hair	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital blind loop syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of premaxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Common arterial trunk with isolated pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Double aortic arch with unilateral atresia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of pituitary gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Parallel course of aorta and pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Café-au-lait macules with pulmonary stenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Sinus pericranii	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Inferior vena cava connecting to right atrium and left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Uncombable hair syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Encephalocystocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Sjögren-Larsson syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of face	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Genitoperineal raphe cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Persistent cloaca	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Rudimentary uterus in male	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of anus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Port-wine stain with associated anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous course of coronary artery anterior to pulmonary trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Complete transposition of great vessels	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Jackson's membrane	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of exoccipital bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Frontal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of nose and nasopharynx	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Circumflex runs posterior to pulmonary trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Single coronary artery dividing into right coronary artery and left coronary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Tuberous sclerosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Capillary-venous malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital scar	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Coarctation of left pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left aortic arch and right descending aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Major systemic to pulmonary collateral artery supplying entire left lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Incomplete ossification of premaxilla	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Incomplete ossification of alisphenoid bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Intracardiac location of anomalous pulmonary venous connection to right atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Verrucous hemangioma of skin	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Double aortic arch with both patent	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Weber's true diffuse phlebarteriectasis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Incomplete ossification of exoccipital bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Angiokeratoma circumscriptum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Ichthyosis hystrix	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous pulmonary venous drainage to right atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Autosomal dominant ichthyosis vulgaris	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Major systemic to pulmonary collateral artery supplying unknown zone of distribution	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Pharyngeal pituitary tissue	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Harlequin ichthyosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Encephalocele of orbit	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of pulmonary artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Abnormal coronary artery course	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of basisphenoid bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pili torti-deafness syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Peutz-Jeghers polyps of small bowel	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital cyst of adrenal gland	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Imperforate anus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pulmonary tuberous sclerosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous insertion of ductus arteriosus into pulmonary trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital redundant colon	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Neurofibromatosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ichthyosis follicularis with alopecia and photophobia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Port-wine stain associated with spinal dysraphism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Port-wine stain associated with spinal dysraphism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital hypertrichosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital pulmonary arteriovenous aneurysm	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Crouzon syndrome with acanthosis nigricans	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Congenital overgrowth of partial lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Aicardi's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	7
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Humeroradial synostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Situs inversus thoracis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Polyorchism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of ocular adnexa	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Sirenoform monster	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital web of larynx	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital misalignment of arch of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital pseudoporencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Pancreatic duct anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital malformation of angle of anterior chamber of eye	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Distal muscular dystrophy with juvenile onset	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Excessive restriction of ventricular septal defect as complication of procedure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of visual system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Fibrous skin tumor of tuberous sclerosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Severe autosomal recessive muscular dystrophy of childhood - North African type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Known OR suspected fetal hydrocephalus affecting obstetrical care	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Schizencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital sclerocornea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital sequestration of lung	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Brachymetapody	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital myopathy with abnormal subcellular organelles	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of digit	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Patent vitelline duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Incomplete ossification of tympanic anulus	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