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