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
Accessory salivary gland	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital fistula of salivary gland	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital coronary arteriovenous fistula (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hamartoma	Is a	False	dysgenese	Inferred relationship	Some
Polycoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pseudo-polycoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Atresia of pupil	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Persistent tunica vasculosa lentis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent pupillary membranes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pericardial defect (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital miosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital iris ectropion (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of salivary gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital fistula of salivary gland	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Accessory salivary gland or duct	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital coronary arteriovenous fistula (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Accessory salivary gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ectopic parotid gland tissue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Central serous retinopathy with pit of optic disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Reverse position of adjacent teeth (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Displacement of tooth (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
[X]Other congenital cauda equina malformations	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit anomali	Is a	False	dysgenese	Inferred relationship	Some
Aplasia	Is a	False	dysgenese	Inferred relationship	Some
Venous malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spongy venous malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Morning glory disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Unilateralt segmentært kavernøst hæmangiom	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Gorham's disease	Associated morphology	False	dysgenese	Inferred relationship	Some	2
mangelfuld udvikling af cauda equina	Associated morphology	False	dysgenese	Inferred relationship	Some	1
mangelfuld udvikling af cauda equina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Female hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Female hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Irido-corneo-trabecular dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital dysarthria	Associated morphology	False	dysgenese	Inferred relationship	Some
Dysgenesis of the cerebellum	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Aplasia of the vermis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Familial aplasia of the vermis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Granular cell hypoplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cerebral dysgenese	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Irido-cornea-dysgenese	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital spastic foot	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital athetosis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
[X]Cerebral palsy and other paralytic syndromes	Associated morphology	False	dysgenese	Inferred relationship	Some	1
cerebellar anomali, ikke nærmere specificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dysplasi i cerebrale cortex	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Morbidly adherent placenta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Placenta adherent to previous uterine scar	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Morbidly adherent placenta in which the chorionic villi invade into the myometrium.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Morbidly adherent placenta in which the chorionic villi invade through the myometrium.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Adherent placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Placenta accreta without hemorrhage	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Morbidly adherent placenta in which the chorionic villi attach to the myometrium, rather than being restricted to the decidua basalis.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Andersen Tawil syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some
Complete epiphyseal arrest	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Complete epiphyseal arrest	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Canine hypertrophic osteodystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Complete epiphyseal arrest	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Complete epiphyseal arrest	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Trochlear notch incongruity (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
[X]Other congenital malformations of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	1
udviklingsrelateret ovariecyste	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of head of metacarpals	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Total placenta previa with intrapartum hemorrhage	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of lower extremity, excluding foot	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of talus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of second metatarsal	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of hand	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Juvenile osteochondrosis of upper extremity	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of the secondary patellar center	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Velamentous insertion of umbilical cord	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of tibial tubercle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of primary patellar center	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of tarsal navicular	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of carpal lunate	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Placenta previa centralis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Septo-optic dysplasia sequence (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Juvenile osteochondrosis of fifth metatarsal	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of lower ulna	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenil osteokondrose af fod, ikke nærmere specificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Marginal placenta previa with intrapartum hemorrhage	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenil osteokondrose i benet, uspecificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenil osteokondrose i benet, ikke nærmere specificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenil osteokondrose i fod, uspecificeret	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of lower extremity	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Juvenile osteochondrosis of the foot (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2

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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)