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
Child syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Coffin-Lowry syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Bloom syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
VACTEL syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Single stage epispadias repair	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Endemic cretinism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Pygodidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital transposition of stomach	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Nager syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nager syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Multiple malformation syndrome due to non-infectious environmental agents	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Osteochondrodysplasia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Second stage of two-stage epispadias repair	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
anencefali och liknande missbildningar	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Anadidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Persistent cerebral embryonic artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
agnati	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
missbildat foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
enkelt missbildat foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Ruvalcaba-Myhres syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ruvalcaba-Myhres syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
First stage of two-stage epispadias repair	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ruvalcaba syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital iodine deficiency syndrome of neurological type (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital abnormal fusion	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Incomplete anencephaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oral lymphangioma	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital hypothyroidism without goitre	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
missbildningsdefektspektrum	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Thalidomide embryopathy syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kongenital vaskulär missbildning	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
22q11-deletionssyndromet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Thoracodidymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Mietens syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Mietens syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Otocephalic syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Macropalpebral fissure	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital pulmonary lymphangiectasis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Gastrothoracopagus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Rothmund-Thomson syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Synotus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fetal primidone syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital malformation of cutaneous lymphatics (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Franceschetti-Kleins syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kongenital kavitet	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Venous-lymphatic malformation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Heterodymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
VATER association	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Fetal carbamazepine syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Diffuse lymphangioma	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Facio-auriculo-vertebral spectrum (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
cephalodymus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
kongenital onormal kommunikation	Is a	False	utvecklingsabnormitet	Inferred relationship	Some
Dicephalus dipus tetrabrachius (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Celosomus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Duhamel's syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal valproate syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Abdominosacroperineal pull-through	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Cutback of covered anus	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Distichiasis-lymphedema syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
dubbelt missbildat foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Systemic lymphangiomatosis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Monocephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital malformation of uterus and cervix (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
foster med missbildning i centrala nervsystemet, framfött	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Janiceps	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fetal toluene syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cleft palate lateral synechia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Pallister-Hall syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Gastrothoracopagus dipygus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dicephalic parapagus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Zellweger syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Sacroperineal pull-through	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
foster med missbildning i centrala nervsystemet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Derencephalus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
trillingmissbildning av foster	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Monocephalus tetrapus dibrachius	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital malformation of tongue, mouth and pharynx	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital malformation of tongue, mouth and pharynx	Associated morphology	False	utvecklingsabnormitet	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
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)