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
utvecklingsabnormitet	Is a	kongenital anomali	false	Inferred relationship	Some
utvecklingsabnormitet	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Macrogenia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Talocalcaneal coalition	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
medfödd pigmentering	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Congenital prelingual deafness	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Muscle-eye-brain disease, congenital muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Melnick-Fraser syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Astragaloscaphoid synostosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
medfödd förstoring	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
keilognatopalatoschis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Transverse deficiency of upper limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
kongenital opacitet	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Sacralization of fifth lumbar vertebra (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Coarctation	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Lumbarized first sacral vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Central incomplete cleft palate with cleft lip (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Cleft upper lip, upper jaw AND palate	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Muscle eye brain disease	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Complex tarsal coalition	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
utvecklingsbetingad striktur	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
missbildat foster med sirenomyeli	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
brakymetapodi hos första metatarsalbenet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Coffin-Lowry syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
brakymetapodi hos fjärde metatarsalbenet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
sirenomyelisyndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital fusion of spine	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Hooded clitoris	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital lumbosacral fusion	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital partial fusion of spine with hemivertebra - unbalanced	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital partial fusion of spine - unbalanced	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital complete fusion of spine	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Williams syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital partial fusion of spine	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital partial fusion of spine - balanced	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Radioulnar synostosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital partial fusion of spine with hemivertebra - balanced	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Isolation of common carotid artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital ankylosis of elbow	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Atresia of aqueduct of Sylvius	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cheilognathoprosoposchisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	9
Aqueduct of Sylvius anomaly (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Isolation of left common carotid artery (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of carotid artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital cleft of posterior cricoid cartilage	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
cervikalt spinalt hydromeningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Isolation of right common carotid artery (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Long segment Hirschsprung's disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Short segment Hirschsprung's disease	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Lithopedion	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
fetus papyraceus, framfött	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
grodfoster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital anisocoria	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Mummified fetus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Talipes valgus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital abnormality of great veins and coronary sinus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
onormalt foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Jervell and Lange-Nielsen syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
fetus papyraceus, barnet ej framfött	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Immature fetus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Kohlschutter's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Harlequin fetus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Persistent left posterior cardinal vein	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Capillary-venous malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Bilateral incomplete cleft lip and alveolus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Fetus papyraceous	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malformation of blood vessel of orbit proper (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital sacral meningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Nodular embryo	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
cylindriskt embryo	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
tillväxthämmat embryo	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Sturge-Weber syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Secondary congenital bronchomalacia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Secondary congenital bronchomalacia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Congenital tracheo-oesophageal cleft	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Congenital tracheo-oesophageal cleft	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Common coronary artery orifice (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fetal postural deformity	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Tracheal origin of right upper lobe bronchus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Fetal aminopterin syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital tracheocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital tracheocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital midvalvar ring of mitral leaflet (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital athetosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital bronchomalacia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Congenital bronchomalacia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Ventricular imbalance (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malformation of trachea and bronchus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital malformation of trachea and bronchus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Primary congenital bronchomalacia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Primary congenital bronchomalacia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
kongenital anomali i fetal njure	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
multipla kongenitala anomalier hos foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
kongenital anomali av foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fetal aminopterin syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cheilognathoschisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)