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
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
udviklingsrelateret ovariecyste	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Persistent pupillary membranes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cystic eyeball	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Talipes equinovarus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of nipple	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spina bifida of dorsal region (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida of dorsal region (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomalies of eyelid, lacrimal system and orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Macrotia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Plantarflexed cuboid	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Aganglionosis of colon	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mittendorf's dot (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Delvis underudvikling af overekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of ascending aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Polycoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bowing of femur	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ankyloblepharon filiforme adnatum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duplication of lower limb bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of hyoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of upper respiratory system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital sternomastoid tumour	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital exostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of clavicle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anteversion of femur	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of iris and ciliary body	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of pleural folds	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of anterior chamber of eye	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Metatarsus varus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Kongenit myelinmangel i synsnervepapil	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thoracic myelocystocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Thoracic myelocystocele	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Enkelt lungecyste	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital commissural pits	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pure gonadal dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
læbefordybninger	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Orbital separation diminished	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Scapulohumeral muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete ossification of arch of thoracic vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spina bifida aperta	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Spina bifida aperta	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital focal enlargement of rib	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dyke-Davidoff-Masson syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Familial arthrogryposis-cholestatic hepatorenal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Anophthalmos	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent tuberculum impar	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of uvula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lumbosacral prespondylolisthesis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital glottic web of larynx	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of breast	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of supraoccipital bone	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Single muscular ventricular septum defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Transverse arrest carpal level	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Redundant prepuce	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Subluxatable hip	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Muscular ventricular septal defect in marginal septum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
åben defekt i rygsøjlen med hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
åben defekt i rygsøjlen med hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Roger's disease	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Symbrachydactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital blue dot cataract	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of tracheal cartilage	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete development of membranous labyrinth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of talus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thoracolumbar spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Thoracolumbar spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital spondylolysis of lumbosacral region	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Multipel kongenit ledstivhed	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of cardiovascular structure of trunk	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tongue tie	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bony fusion of phalanges (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Defect of telencephalic division	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of auditory ossicles	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Perodactylia of multiple toes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Jarcho-Levin syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Microphakia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital structural abnormality of eyelid	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Radial polydactyly Wassel 6	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital misalignment of centrum of thoracic vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Polydactyly of fingers (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Peutz-Jeghers syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Chondrodystrophia malacia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duane's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spinal hamartoma	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cryptotia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of peripheral blood vessel (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of the meninges	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital spinal meningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Benign autosomal dominant osteopetrose	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lymphatic structure of trunk	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of nasal sinuses	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Iniencephaly - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	3

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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
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)