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 abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

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

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core