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
Leydig cell agenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Leydig cell agenesis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Nasal glial heterotopia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some
Orofacial-digital syndrome IV	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some
Uterus bicornis unicollis	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
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital duplication of cervix	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Reifensteins syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital absence of clitoris	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital hypoplasia of aortic arch	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Ectopic ovary	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Placenta previa marginalis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Embryonic fimbrial cyst	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital spinal meningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nasal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Syndactyly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some
Adactylia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some
Longitudinal deficiency of tibia AND/OR fibula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some
Mesotaurodontism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Pyloric antral atresia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Right aortic arch	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Ectopic pancreas in duodenum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Horner's teeth	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Posterior crossbite	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital obstruction of aqueduct of Sylvius	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital hypoplasia of bile duct	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital rectovaginal fistula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital dilatation of lobar intrahepatic bile duct	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital hypoplasia of pancreas	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
medfödd anomali i könsorgan	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital absence of vulva	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital mesenteroaxial volvulus of stomach	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Dyke-Davidoff-Masson syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Ecchordosis physaliphora	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Placenta accreta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Streak ovary	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Meningomyelocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Multiseptate gallbladder	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
medfött spinalt hydromeningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Postductal coarctation of aorta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Uterus bicornis bicollis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Total placenta praevia with intrapartum haemorrhage	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Coronary artery arising from main pulmonary artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
hydroraki	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Twin dichorionic diamniotic placenta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Septo-optic dysplasia sequence	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Mottling of enamel	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intrahepatic gallbladder	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Accessory pancreas	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Aicardi's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
hydromeningomyelocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hydromyelia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Optic disc vascular anomaly (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Embryonic cyst of Gartner's duct	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital atresia of extrahepatic bile duct	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital absence of pancreas	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Twin monochorionic monoamniotic placenta	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Monorchism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Monorchism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Marginal placenta previa with intrapartum hemorrhage	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Female pseudohermaphroditism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ectopic pancreatic tissue in stomach	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital absence of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital absence of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
retinerad tand med onormalt läge	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Uterus bicornis affecting pregnancy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital anomaly of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital anomaly of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Frontal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Frontoethmoidal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Localised macrodontia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Localized microdontia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Temporal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Parietal encephalocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Lobar holoprosencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Alobar holoprosencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Semi-lobar holoprosencephaly (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital hypoplasia of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital hypoplasia of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
dysgenesi av corpus callosum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Atrophy of corpus callosum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital hypoplasia of vas deferens	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital hypoplasia of vas deferens	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Familial megalencephaly (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Sporadic megalencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hemimegalencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of epididymis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malposition of vas deferens	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malposition of vas deferens	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Aniridia type 1	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Aniridia type 2	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Pseudo-polycoria (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital heterochromia iridis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital cyst of iris	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Pure gonadal dysgenesis 46,XX	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Reverse posterior crossbite	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital sacral meningocele	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)