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
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital cataract	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Axenfeld anomaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Fundus coloboma	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of carpal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Atlanto-occipital malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of tibia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
känd eller misstänkt anencefali hos fostret som påverkar den obstetriska vården	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital anomaly of large intestine	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of bronchus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Retinal arteriovenous shunt	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of ulna	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital thickening of tibia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Congenital tracheo-oesophageal cleft	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Developmental anomaly of vitelline duct (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital anomaly of oral mucosa	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital zonular cataract	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
gälspringa	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
gälspringa	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
gälspringa	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Mesoaxial polydactyly of toe	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital cystic adenomatoid malformation of lung	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Muscular ventricular septal defect in inlet septum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple brain anomalies	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Supernumerary centrum of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital umbilical defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Hemimyelocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Hemimyelocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Incomplete ossification of lacrimal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Acephalocheiria	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Congenital hiatus hernia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
medfödd avsaknad av nedre extremitet med förekomst av fot och tår	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ventricular septal defect between left ventricle and right atrium	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of spermatic cord	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Transverse deficiency of arm, upper arm level - short	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Hutterite type of muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital thickening of fibula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Microcornea	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Duplication of tibia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Imperforate large intestine	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
medfödd avsaknad av ben och fot	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of humerus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dysplastic ovary	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital miosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malrotation of limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Duane's syndrome, type 2	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Bertolotti's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of epiglottis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Retinal hemangioblastomatosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital fissure of sternum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital abnormality of foot and toes (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dubin-Johnson syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cerebro-costo-mandibular syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
specificerade anomalier i åderhinna	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cortical dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Craniometaphyseal dysplasia - severe type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Lumbar spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Lumbar spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Bilateral bilobed lungs due to isomerism of left lung (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple anterior segment anomalies	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Diplomyelia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Pure gonadal dysgenesis 46,XY	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Aprosencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Radial polydactyly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lipomeningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Abnormality of neurogenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
slutning av kammarseptumdefekt	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of lacrimal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital malformation of thumb (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of bile ducts	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
kongenital hypomyelinogenes	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital abnormality of external ear	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nasal glial heterotopia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital overgrowth of lower limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of centrum of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Radial polydactyly Wassel 5	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Reunion-Indiana Amish type muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of pubis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital floating liver (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Optic disc vascular anomaly (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Exstrophy of cloaca sequence (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Exstrophy of cloaca sequence (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	10
Congenital thickening of scapula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nasopharyngeal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Congenital thickening of tarsal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
rudimentär bröstvårta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital misalignment of pubis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Duane's syndrome, type 1	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital enlargement of nasopharynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Persistent human tail	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple muscular ventricular septum defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ventricular septal defect with malaligned outlet septum to right (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Spina bifida of lumbar region	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Spina bifida of lumbar region	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital anomaly of radius	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2

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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)