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
Sacral spina bifida with hydrocephalus - open (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Sacral spina bifida with hydrocephalus - open (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
meromikrosomi	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Supracristal ventricular septal defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Furst-Ostrums syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital thickening of rib	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Alstrom syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital malposition of tarsal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of scapula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
medfödd fissur i larynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Perodactylia of lesser toe	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Mis-shapen spleen	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital lobulation of spleen	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Micropapilla	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital abnormal fusion of femur	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital microhepatia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Microdysgenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Incomplete ossification of rib	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of orbit	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital overgrowth of proximal lower limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Syringomyelia and syringobulbia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital complex varus foot deformity	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Incomplete ossification of centrum of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Reticulate vascular nevus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
oklassificerad osteopetros	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Persistent Blake's pouch cyst	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital flaccid paralysis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of cartilage	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Caudal regression syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of tibia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Myelodysplasia of spinal cord	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Thoracic spina bifida without hydrocephalus - closed	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - closed	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Separate hepatic vein and inferior vena cava connections to heart (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Funnel-shaped pelvis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital familial idiopathic priapism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Hemicentric cervical centrum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Proximal interphalangeal joint symphalangism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Complete situs inversus with dextrocardia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
sirenomyelisyndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Radial polydactyly Wassel 2	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Mirror image bronchial anatomy (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Myeloschisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Monophthalmos	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of upper trunk	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fibrolipoma of filum terminale	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Delta phalanx of finger	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital clinodactyly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital leg length discrepancy (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital thickening of ischium	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple pterygium syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cervical myelocystocele (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cervical myelocystocele (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital penoscrotal transposition	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Aglossia-adactyly syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Holorachischisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Holorachischisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Nagele's pelvis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital corneal opacity without visual deficit	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of spinal cord (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Incomplete ossification of fibula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Segmental neurofibromatosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital abnormality of middle cardiac vein (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cockayne syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Prune belly syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital rearfoot varus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Incomplete ossification of centrum of sacral vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Functionally congenital single lung (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Miller Dieker syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oculoskeletal dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oculoskeletal dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of spinal meninges	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Benign scapuloperoneal muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of upper limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cleft hand - central	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
sena sekundära abnormiteter i centrala nervsystemet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Tibial muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Anisomelia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of larynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ulnar dimelia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
underväxt av hel arm	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of lacrimal system	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Geographic retinal dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital perforation of the nasal sinus wall	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital bent humerus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Left bronchial isomerism (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ectopic cilia of eyelid	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital leg bone bowing	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
SOX2 anophthalmia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Coffin-Siris syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Giant ventricular septal defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
preaurikulär sinus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
preaurikulär sinus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
preaurikulär sinus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Microtia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital failure of eye elevation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital emphysema	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4

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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)