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
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Persistent left superior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of epidermal appendages	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of intestinal tract	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supracardiac location of anomalous pulmonary venous connection to right sided vertical vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of integument	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital splenorenal shunt	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Double aortic arch with right arch dominant and coarctation of left arch (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Inferior vena cava to left of spine	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pindsvinemenneske	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral patent arterial ducts	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hereditary vascular fragility	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital flat back deformity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of squamosal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital hypertrichosis lanuginosa (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hypertrichosis with congenital macrogingivae (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of basisphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Embryonic cyst	Is a	False	dysgenese	Inferred relationship	Some
Hypotrichosis with keratosis pilaris and lentiginosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supracardiac location of anomalous pulmonary venous connection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pulmonary venous confluence in horizontal orientation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of alisphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of interparietal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of superior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous pulmonary venous connection of mixed type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Midline cervical cleft (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Bayonet hair	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Frontoethmoidal encephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interrupted aortic arch between left subclavian and left common carotid artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital vascular malformation of lip (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of adrenal gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Circumflex runs posterior to aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of basioccipital bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pili annulati	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Craniofacial microsomia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral superior vena cava (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of palatine bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ichthyosis hystrix Bäfverstedt type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left superior caval vein persisting to left sided atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kommerell's diverticulum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lower alimentary tract	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bipartite ossification of interparietal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Common arterial trunk with crossed over pulmonary arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Anomalous pulmonary venous drainage to superior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital enlargement of fontanel	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Mesenteric cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Nasofrontal encephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Venous valvular anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical thyroid remnant	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cutaneous syndrome with ichthyosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Preauricular cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Venous-lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital oesophageal ring	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hereditary benign intraepithelial dyskeratosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Lack of ossification of frontal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Interrupted aortic arch	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous insertion of ductus arteriosus into distal left pulmonary artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vascular neurocutaneous syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Sturge-Weber syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Localised bullous ichthyosiform erythroderma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Common arterial trunk and common origin of pulmonary arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Double aortic arch with right arch dominant and atresia of left arch (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Splenoportal vascular anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of presphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Naso-palatine duct cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Pentalogy of Fallot	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Systemic to pulmonary collateral artery	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Interruption of coronary artery	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pulmonary venous confluence in direct proximity to left atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of maxilla	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double aortic arch with right arch dominant and left arch patent (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hypotrichia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Potter's facies	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incontinentia pigmenti syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Aortic arch centrally descending	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cebocephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pulmonary artery connecting to coronary artery via collateral artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous insertion of ductus arteriosus into right pulmonary artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of face bones	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Parietal encephalocele (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Kongenitte kæbedeformiteter	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Oesophageal atresia, stenosis and fistula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right superior vena cava connecting to coronary sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Atypical ichthyosis vulgaris with hypogonadism	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right arterial duct	Associated morphology	False	dysgenese	Inferred relationship	Some	1

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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
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)