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
Cutaneous capillary malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Phakomatosis cesioflammea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Phakomatosis spilorosea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Phakomatosis caesiomarmorata	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Hypodontia and nail dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital internal tibial torsion	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Anomaly of interarch distance	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with common atrioventricular orifice	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect and common atrioventricular junction	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect - ventricular component under inferior bridging leaflet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with restrictive ventricular component	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect - ventricular component	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect - isolated ventricular component	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect - ventricular component under superior bridging leaflet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect: atrial and ventricular components	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with separate atrioventricular orifices	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Megalencephaly-capillary malformation syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Megalencephaly-capillary malformation syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Ophthalmo-acromelic syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital billowing of mitral valve leaflet	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Phakomatosis cesioflammea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Phakomatosis spilorosea	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Phakomatosis caesiomarmorata	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Microcephaly-capillary malformation syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Isolation of left subclavian artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Isolation of right subclavian artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Cerebral-retinal arteriovenous aneurysm	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital heart block	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Late congenital syphilitic polyneuropathy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital bowing of tibia and/or fibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital conduction defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Isolation of subclavian artery	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital reticular ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital exomphalos	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Atrioventricular septal defect with additional muscular ventricular septal defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Structural developmental anomalies of neurenteric canal	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Anhidrotic ectodermal dysplasia with immune deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Mowat-Wilson syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Manitoba oculotrichoanal syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Retinal detachment and occipital encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	10
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Isolation of brachiocephalic trunk	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Capillary malformation-arteriovenous malformation syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Aortic valve overriding ventricular septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Megacystis-megaureter syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Aplasia of muscle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Retinal detachment and occipital encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	11
Anophthalmos	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Cerebral cortical dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida aperta of lumbar spine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Developmental abnormality of cusp of tooth	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of bladder and urethra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of bladder and urethra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida occulta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Fissured spine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital split ear lobe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Myelocystocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
X-linked dyskeratosis congenita	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Occult spinal dysraphism sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Thoracic myelocystocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Cervical myelocystocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Myeloschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida aperta of cervical spine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Fourth branchial cleft cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Thoracic spina bifida with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Atlanto-occipital malformation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Descending aorta anterior and same side as azygos vein with absent inferior vena cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
First branchial cleft cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Amelogenesis imperfecta and gingival hyperplasia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Solitary median maxillary central incisor syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
First and second branchial arch syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
First and second branchial arch syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida aperta of thoracic spine	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Autosomal recessive dyskeratosis congenita	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5

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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