21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Synophrys	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital abnormality of great cardiac vein	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of iris and ciliary body	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital abnormality of right atrioventricular valve in double inlet ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of endocrine gonad	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Persistent tunica vasculosa lentis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Fronto-frontal dysostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital abnormality of aortic valve cusp	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of right atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Thoracoceloschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	7
Nodular heterotopia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Lumbosacral agenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital abnormality of scrotum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital blepharophimosis of lower eyelid	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Complex craniosynostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Simple craniosynostosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Distal penile hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Proximal penile hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Auriculo-condylar syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Penile shaft hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Penile mid-shaft hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Scrotal hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital positive ulnar variant of wrist	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of fetal kidney	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Patent urachus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Diplopodia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Poland anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Holt-Oram syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Progression of fetal left ventricular outflow tract obstruction	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Progression of fetal right ventricular outflow tract obstruction	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Thoracoceloschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Transitional lumbosacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Abnormal left ventricular muscle band	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right ventricular muscular infundibular stenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bipartite right ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Triphalangeal great toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Total great vessel transposition	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital malposition	Is a	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Congenital anomaly of toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hallux varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right sided atrium connecting to right ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital stricture of osseous meatus of middle ear	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Bilateral deficient infundibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Bilateral muscular infundibula	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Abnormal infundibular morphology	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Malaligned outlet septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital stenosis	Is a	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Roberts-SC phocomelia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Anomalies of cerebellum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Metatarsus primus varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Subpulmonary infundibulum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right ventricular fibromuscular infundibular stenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Macrodactyly of toes - simple	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Transposition of aorta	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Combined valvular-subvalvular pulmonic stenosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital curly toes	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Anterior open bite	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Right sided atrium connecting to both ventricles	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital crossed toes	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Metatarsus varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Bicuspid truncal valve	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Acrosyndactyly of toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Macrodactyly of toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Subaortic infundibulum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Macrodactyly of toes - fatty nerve tumor	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital hallux valgus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Stenosis of infundibulum of right ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of cerebrum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Developmental anomaly of odontoid process of axis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital varus deformity of foot	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital complex varus foot deformity	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital rearfoot varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital forefoot varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Talipes equinovarus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Congenital dysgenetic ptosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Glanular hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Coronal hypospadias	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Talocalcaneal bar	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Central complete cleft palate with cleft lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Macrogyria	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Coalition of calcaneus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cleft palate with cleft lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital deafness	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cheilopalatoschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Anonychia with bizarre flexural pigmentation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cleft hard palate with cleft lip, bilateral	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Common atrioventricular-type ventricular septal defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Sacralization of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Naviculocuneiform bar	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital growth alteration	Is a	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Palatoschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Combined malformation of central nervous system and skeletal muscle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Cheilognathouranoschisis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Walker-Warburg congenital muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Tarsal coalitions	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Macrogenia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190336012	Developmental malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190337015	Developmental defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190338013	Dysgenesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190339017	Anomalous formation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190340015	Abnormal development	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190341016	Malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1208681014	Developmental abnormality	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module