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
Synophrys	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of great cardiac vein (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of iris and ciliary body	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of right atrioventricular valve in double inlet ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Persistent tunica vasculosa lentis	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Fronto-frontal dysostosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital abnormality of aortic valve cusp (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of right atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of left atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thoracoceloschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Nodular heterotopia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lumbosacral agenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital abnormality of scrotum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital blepharophimosis of lower eyelid	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Nonsyndromic premature fusion of multiple sutures.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Nonsyndromic premature fusion of a single suture.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Distal penile hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Proximal penile hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Auriculo-condylar syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Penile shaft hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Penile mid-shaft hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Scrotal hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Condition where the ulna projects more distally relative to the radius.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of fetal kidney	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Patent urachus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Diplopodia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Progression of fetal left ventricular outflow tract obstruction (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Progression of fetal right ventricular outflow tract obstruction	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Thoracoceloschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Abnormal left ventricular muscle band	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular muscular infundibular stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bipartite right ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Triphalangeal great toe	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Total transposition af store kar	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit fejlstilling	Is a	False	dysgenese	Inferred relationship	Some
Congenital anomaly of toe	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hallux varus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right sided atrium connecting to right ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital stricture of osseous meatus of middle ear	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Bilateral deficient infundibula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral muscular infundibula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnorm infundibulummorfologi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Malaligned outlet septum	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit stenose	Is a	False	dysgenese	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Anomalies of cerebellum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Metatarsus primus varus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Subpulmonary infundibulum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular fibromuscular infundibular stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Macrodactyly of toes - simple	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Transposition of aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Combined valvular-subvalvular pulmonic stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital curly toes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anterior open bite	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Right sided atrium connecting to both ventricles (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital crossed toes	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Metatarsus varus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Bicuspid truncal valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Acrosyndactyly of toe	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Macrodactyly of toe (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Subaortic infundibulum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Macrodactyly of toes - fatty nerve tumor	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital hallux valgus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Stenosis of infundibulum of right ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of cerebrum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Developmental anomaly of odontoid process of axis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital varus deformity of foot	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital complex varus foot deformity	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital rearfoot varus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital forefoot varus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Talipes equinovarus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Congenital dysgenetic ptosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Glanular hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Coronal hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Koalition mellem talus og calcaneus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Central complete cleft palate with cleft lip	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Macrogyria (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Sammenvoksning af calcaneus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cleft palate with cleft lip	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital deafness	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Keilopalatoskise	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Anonychia with bizarre flexural pigmentation	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cleft hard palate with cleft lip, bilateral	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Common atrioventricular-type ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Sacralization of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Naviculocuneiform bar	Associated morphology	False	dysgenese	Inferred relationship	Some	3
kongenit vækstændring	Is a	False	dysgenese	Inferred relationship	Some
Palatoskise	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cheilognathouranoschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Walker-Warburg congenital muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Tarsal coalitions	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Macrogenia	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)