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
Congenital misalignment of arch of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Klippel-Trenaunay-Webers syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Faun tail syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Nance-Horan syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malposition of testis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
agyri	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Goniodysgenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Radioulnar synostosis and dislocation of radial head	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of prostate	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
medfödd megakolon	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Zebra body myopathy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenitally small punctum lacrimale	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of hand (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Infantile pelvis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Metatarsus primus varus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ulegyria	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Transverse deficiency of arm, upper arm level - long	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cerebral cortical dysgenesis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital thickening of pubis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Pulmonary atresia with ventricular septal defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Osteopetrosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
neuroenterisk cysta och associerad missbildning	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
neurofibromatos typ 3	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Occipital encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Dumbbell-shaped cartilaginous centrum of cervical vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital pelvic obliquity (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital misalignment of centrum of sacral vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
dysgenesi av corpus callosum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Proximal radioulnar synostosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital diverticulum of pharynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Posteriorly rotated ear (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of supraoccipital bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital thickening of humerus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of metacarpal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Undergrowth of whole hand	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multifocal retinal dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Streak ovary	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Distal muscular dystrophy, Miyoshi type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Myelatelia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Humeroulnar synostosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Spina bifida with hydrocephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Spina bifida with hydrocephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Manus vara	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Irido-corneo-trabecular dysgenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Trilobed left lung	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Duplication of clitoris	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Muscular ventricular septal defect in trabecular septum (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Inherited arthrogryposis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Congenital ptosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Popliteal pterygium syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Situs inversus abdominalis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Spinal cord dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
DiGeorges syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cornea plana	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of vomer	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital laryngocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
autosomalt recessiv muskeldystrofi med gen belägen på 15q	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Macromelia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of the hematopoietic system	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ectopic gray matter	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lobulated tongue	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of vas deferens	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital fusion of sacroiliac joint	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Splenogonadal fusion	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital cyst of posterior segment of eye	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ectopic tissue in lung	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Autosomal recessive centronuclear myopathy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Platypellic pelvis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lack of ossification of centrum of cervical vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Walker-Warburg congenital muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
vaskulära anomalier hos bakre segment	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Confluent muscular ventricular septal defect (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of finger	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital bent pubis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Omphalocele with obstruction	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Incomplete ossification of tarsal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Colpocephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cervical spina bifida without hydrocephalus - closed	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - closed	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital ankyloblepharon	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of lower trunk	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Morning glory disc	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Localized cortical dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Duplication of the whole foot	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Periventricular leucomalacia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
torakal hydromeningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Hypertelorism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Sotos' syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Kallmans syndrom hos kvinna	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Incomplete ossification of femur	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lungs in mirror image arrangement (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
familjära multipla café-au-lait-färgade hudfläckar utan neurofibromatos	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Borjeson-Forssman-Lehmann syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4

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Reference Sets

Concept inactivation indicator reference set

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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)