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 emphysema	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Calcaneonavicular bar	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital ectropion of lip	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malformation of sternum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Distal muscular dystrophy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital thoracostenosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Duplication of lower limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Arteriohepatic dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Lack of ossification of humerus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of premaxilla	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of nasal turbinate	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of thoracic cage	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of the peripheral nervous system	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital omphalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Lack of ossification of tympanic anulus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital keratoconus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital cyst of mediastinum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cortical dysplasia with hemimegalencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Prune belly syndrome with pulmonic stenosis, mental retardation and deafness	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital malposition of rib	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital stricture of osseous meatus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of calcaneus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
medfödd avsaknad av underarm med hand och fingrar	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ecchordosis physaliphora	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Coloboma of eyelid	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of inner ear	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Phocomelia of upper limb (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
acefaloraki	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Neural tube defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
hydroraki	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
medfödd minskad tillväxt av fot	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Muscular ventricular septum defect	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Swan's syndrome II	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital forefoot varus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Distal interphalangeal joint symphalangism (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital cyst of iris	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Spina bifida with hydrocephalus of late onset	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Angelman syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dumbbell ossification of centrum of cervical vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Imperforate lacrimal punctum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malformation of the respiratory system (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of talus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular outlet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
medfödd muskeldystrofi	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Megalocornea	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of peritoneum (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital liver grooves	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ectopic liver (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital phimosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
distal muskeldystrofi med debut i vuxen ålder	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital abnormality of pulmonary trunk (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of ischium	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Omphalocele - irreducible	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Congenital subluxation of carpus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital amputation of upper limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Hemimegalencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Rachischisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Rachischisis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Congenital anomaly of vulva	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital instability of hip joint	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital claw foot (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dumbbell ossification of centrum of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dumbbell ossification of centrum of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Patent ductus arteriosus - delayed closure (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Overgrowth of whole upper limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital blepharophimosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Incomplete ossification of carpal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital posterior polar cataract	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Olivary heterotopia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of organ of Corti	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Patent ductus arteriosus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital abnormality of Eustachian tube (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of carpal bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Branchial cleft internal sinus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Transverse arrest metacarpal first ray	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nasal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Cleidocranial dysostosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
medfödda cystor i bakre ögonkammare	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital cleft hand	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Bipartite ossification of centrum of lumbar vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital chordee	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital anomaly of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital anomaly of middle ear	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of neural structure of trunk	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of cornea	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of thoracic vertebra	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of muscle AND/OR tendon	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Omphalocele with gangrene	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Undescended testicle	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Incomplete ossification of supraoccipital bone	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
funktionell ovarialcysta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3

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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)