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
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left sided atrium connecting to both ventricles	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Absent atrioventricular connection with straddling valve	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anterolateral muscle band	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Acardiacus anceps	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Submucous cleft of hard palate	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Saldino-Mainzer dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Protrusion of tooth (finding)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital misalignment of palate rugae	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Central incomplete cleft palate	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Microcystic renal disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Supernumerary deciduous tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
uterus bicornis, der komplicerer svangreomsorg, barn endnu ikke født	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Nodular renal blastema (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left ventricular outflow tract abnormality	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Overriding mitral valve	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ebstein's anomaly of tricuspid valve with atrialization of right ventricular chamber (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital stenosis of neck of urinary bladder	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ectopia cordis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of fallopian tubes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular outflow obstruction - localized	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit uterusabnormitet, barn født, med post partum-komplikation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Central cleft lip	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Aortic orifice right side by side with respect to pulmonary orifice (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral renal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Mitral leaflet dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lack of ossification of basisphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Abnormal relationship of right ventricle to left ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Uhl's disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cor triatriatum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit uterusabnormitet, der komplicerer post partum-behandling og -pleje, barn født under tidligere behandling	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Complete bilateral cleft lip	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Bipartite ossification of sternebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ambiguous atrioventricular connection	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital diverticulum of lacrimal canaliculus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lower moiety ureter of duplex kidney	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of stomach	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital obstructive defect of renal pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Imperforate ventriculoarterial valve	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cleft hard and soft palate (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Horseshoe kidney	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital microgastria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital superior sulcus anomaly of orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital vascular anomaly of lower eyelid	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Early onset myopathy with fatal cardiomyopathy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Inclusion body myopathy 2 (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Distal myopathy 2	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of vagina in mother complicating pregnancy	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hand-foot-genital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Condition where the ulna projects more distally relative to the radius.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital female urogenital anomaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hypoplasia	Is a	False	dysgenese	Inferred relationship	Some
Congenital hydrosalpinx	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hypoplastic chondrodystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Retinalt varikøst aneurisme	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Klippel-Feil sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Bifid scrotum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of tricuspid leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spheno-frontal dysostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of pulmonary valve cusp (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left ventricular outflow tract obstruction due to neoplasm	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cyste på epoöphoron	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Abnormal attachment of tricuspid chordae tendinae (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of male urogenital tract (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Solitary arterial trunk (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Aortic root congenital abnormality	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital epicardial cyst (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of mitral subvalvular apparatus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Displacement of Wharton's duct (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital abnormality of atrial septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of cardiac vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of tympanic anulus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of tricuspid papillary muscle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Splenoportal vascular anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hyperplastisk kondrodystrofi	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Laminar heterotopia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Van der Woude syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of renal blood vessel (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kendt ELLER mistanke om føtal anencefali med indvirkning på obstetrisk behandling og pleje	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of tricuspid chordae tendinae (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent dorsal mesentery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double eyebrow	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of anterior cardiac vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital laryngeal stridor	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of posterior cardiac vein of left ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Paratubal cyst arising in mesonephric duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ulnar dimelia	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Synophrys	Associated morphology	False	dysgenese	Inferred relationship	Some	4

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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)