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
Developmental abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fetal minoxidil syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pena-Shokeir phenotype	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Kundrat's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lymphangiectasia with chylous reflux (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Single monster, specified type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Sirenomelus sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Persistent omphalomesenteric artery (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Child syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Coffin-Lowry	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Bloom (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
VACTEL syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Larsen syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Single stage epispadias repair	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
Multiple malformation syndrome, small stature, without skeletal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Endemic cretinism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pygodidymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital transposition of stomach	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malformation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Nager (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Nager (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple malformation syndrome due to non-infectious environmental agents (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Osteochondrodysplasia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Second stage of two-stage epispadias repair	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
Anencephalus and similar anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anadidymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Persistent cerebral embryonic artery	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	4
Agnathus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Monster (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Single monster	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ruvalcaba-Myhre syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ruvalcaba-Myhre syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
First stage of two-stage epispadias repair	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Ruvalcaba (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Ruvalcaba (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital iodine deficiency syndrome of neurological type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal fusion	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete anencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oral lymphangioma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital hypothyroidism without goitre	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Malformation defect spectrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Thalidomide embryopathy syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital vascular anomaly	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
Shprintzen syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Thoracodidymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Mietens (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Mietens (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Otocephalic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Macropalpebral fissure	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
lymphangiectasie pulmonaire congénitale (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Gastrothoracopagus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Rothmund-Thomson syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Synotus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fetal primidone syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital malformation of cutaneous lymphatics (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome oto-palato-digital type 2 (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Franceschetti-Klein syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital cavitation (morphologic abnormality)	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
Venous-lymphatic malformation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Heterodymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Immotile cilia syndrome due to defective radial spokes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Persistence of primitive artery	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Fetal carbamazepine syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Diffuse lymphangioma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Facio-auriculo-vertebral spectrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cephalodymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal communication (morphologic abnormality)	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
Dicephalus dipus tetrabrachius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Celosomus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Duhamel's syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Fetal valproate syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Abdominosacroperineal pull-through	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Multiple malformation syndrome with facial-limb defects as major feature	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cutback of covered anus	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	3
Distichiasis-lymphedema syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Double monster	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Systemic lymphangiomatosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Monocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital malformation of uterus and cervix	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Fetus with central nervous system malformation - delivered	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Janiceps (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hajdu-Cheney syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fetal toluene syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de malformations multisystémiques	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cleft palate lateral synechia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Pallister-Hall (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Gastrothoracopagus dipygus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Dicephalic parapagus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Zellweger syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Sacroperineal pull-through	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
Fetus with central nervous system malformation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core