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
Cutaneous capillary malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Phakomatosis cesioflammea	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Phakomatosis spilorosea	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Phakomatosis caesiomarmorata	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Hypodontia and nail dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital internal tibial torsion	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Anomaly of interarch distance	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with common atrioventricular orifice (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect and common atrioventricular junction	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component under inferior bridging leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with restrictive ventricular component (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect - isolated ventricular component	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component under superior bridging leaflet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect: atrial and ventricular components	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with separate atrioventricular orifices (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Megalencephaly-capillary malformation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Megalencephaly-capillary malformation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Ophthalmo-acromelic syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital billowing of mitral valve leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Phakomatosis cesioflammea	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Phakomatosis spilorosea	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Phakomatosis caesiomarmorata	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Isolation of left subclavian artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Isolation of right subclavian artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cerebral-retinal arteriovenous aneurysm (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital heart block	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Late congenital syphilitic polyneuropathy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital bowing of tibia and/or fibula (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital conduction defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Isolation of subclavian artery	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital reticular ichthyosiform erythroderma (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Navlesnorsbrok	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Structural developmental anomalies of neurenteric canal (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Char syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Mowat-Wilson syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Megalencephalic leukoencephalopathy with subcortical cysts	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Manitoba oculotrichoanal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	10
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Isolation of brachiocephalic trunk	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Capillary malformation-arteriovenous malformation syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Aortic valve overriding ventricular septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Megacystis-megaureter syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Aplasia of muscle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Associated morphology	False	dysgenese	Inferred relationship	Some	11
Anophthalmos	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cerebral cortical dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Developmental abnormality of cusp of tooth (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of urinary bladder and urethra (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of urinary bladder and urethra (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
åben defekt i rygsøjlen	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital split ear lobe (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
X-linked dyskeratosis congenita (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Occult spinal dysraphism sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Thoracic myelocystocele	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Spina bifida without hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Cervical myelocystocele	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Myeloschisis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Fourth branchial cleft cyst (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Thoracic spina bifida with hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Atlanto-occipital malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Descending aorta anterior and same side as azygos vein with absent inferior vena cava (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
First branchial cleft cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Solitary median maxillary central incisor syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
First and second branchial arch syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
First and second branchial arch syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Autosomal recessive dyskeratosis congenita	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	5

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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)