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
Macrogenia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Talocalcaneal coalition	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit pigmentering	Is a	False	dysgenese	Inferred relationship	Some
Congenital prelingual deafness	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Muscle-eye-brain disease, congenital muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Melnick-Fraser syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Astragaloscaphoid synostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit forstørrelse	Is a	False	dysgenese	Inferred relationship	Some
Keilognatopalatoskise	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Transverse deficiency of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit opacitet	Is a	False	dysgenese	Inferred relationship	Some
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Coarctation	Is a	False	dysgenese	Inferred relationship	Some
Lumbarized first sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Central incomplete cleft palate with cleft lip	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cleft upper lip, upper jaw AND palate	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Muscle eye brain disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Complex tarsal coalition	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Developmental stricture	Is a	False	dysgenese	Inferred relationship	Some
Sirenomeli-misfoster	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Brachymetapodia i 1. metatarsalknogle	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Brachymetapodia i 4. metatarsalknogle	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Sirenomeli	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital fusion of spine	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hooded clitoris	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital lumbosacral fusion	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital partial fusion of spine with hemivertebra - unbalanced	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital partial fusion of spine - unbalanced	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital complete fusion of spine	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Williams syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital partial fusion of spine	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital partial fusion of spine - balanced	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Radioulnar synostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital partial fusion of spine with hemivertebra - balanced	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Isolation of common carotid artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital ankylosis of elbow	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Atresia of aqueduct of Sylvius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cheilognathoprosoposchisis	Associated morphology	False	dysgenese	Inferred relationship	Some	9
Aqueduct of Sylvius anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Isolation of left common carotid artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of carotid artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cleft of posterior cricoid cartilage	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cervikalt spinalt hydromeningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Isolation of right common carotid artery (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Long segment Hirschsprung's disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Short segment Hirschsprung's disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lithopedion	Associated morphology	False	dysgenese	Inferred relationship	Some	1
foetus compressus, barn født	Associated morphology	False	dysgenese	Inferred relationship	Some	1
frog fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anisocoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mummified fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Talipes valgus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of great veins and coronary sinus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
abnormt foster	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Jervell and Lange-Nielsen syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
foetus compressus, barn ikke født	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Immature fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kohlschutter's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Harlequin fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistent left posterior cardinal vein	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Capillary-venous malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Fetus papyraceous	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation of blood vessel of orbit proper (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital sacral meningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Nodular embryo	Associated morphology	False	dysgenese	Inferred relationship	Some	1
cylindrisk embryon	Associated morphology	False	dysgenese	Inferred relationship	Some	1
væksthæmmet embryon	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Secondary congenital bronchomalacia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Secondary congenital bronchomalacia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Congenital tracheo-oesophageal cleft	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Congenital tracheo-oesophageal cleft	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Common coronary artery orifice (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal postural deformity	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Fetal aminopterin syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital tracheocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital tracheocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital midvalvar ring of mitral leaflet (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital athetosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bronchomalacia	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital bronchomalacia	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Ventricular imbalance (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of trachea and bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malformation of trachea and bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Primary congenital bronchomalacia	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Primary congenital bronchomalacia	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of fetal kidney	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Multiple congenital anomalies of fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of fetus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal aminopterin syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cheilognathoschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	6

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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)