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
Congenital uterine anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Accessory ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rotation of tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hydromyelocele	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Laron-type isolated somatotropin defect	Associated morphology	False	dysgenese	Inferred relationship	Some
Encefalooftalmisk dysplasi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Oculodentodigital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital porencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
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
Uterus arcuatus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Displacement of tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Syndactyly of toes with fusion of bones	Associated morphology	False	dysgenese	Inferred relationship	Some
Brachyphalangia	Associated morphology	False	dysgenese	Inferred relationship	Some
Interruption of aortic arch	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of spinal meninges	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Redundant prepuce	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Redundant prepuce	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Gingival cyst of newborn	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida without hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Papillon-Lefèvre syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Floating liver	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Polydactyly	Associated morphology	False	dysgenese	Inferred relationship	Some
Mietens syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Kongenit manglende underarm med hånd OG fingre	Associated morphology	False	dysgenese	Inferred relationship	Some
Pseudokryptorkisme	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital hepatomegaly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pre-eruptive color change of tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Langer-Giedion syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital abnormality of uterus, affecting pregnancy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital esophagobronchial fistula	Associated morphology	False	dysgenese	Inferred relationship	Some	1
11p partial monosomy syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Macrodactyly of toe (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some
Glycogen storage disease type VIII	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Placenta tripartita	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital absence of foot	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of genital organ	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Symbrachydactyly	Associated morphology	False	dysgenese	Inferred relationship	Some
Longitudinal deficiency of carpal bone	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital varus deformity of foot	Associated morphology	False	dysgenese	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital atresia of fallopian tube	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Islet cell hyperplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Longitudinal deficiency of tibia	Associated morphology	False	dysgenese	Inferred relationship	Some
Multiple anomalies of brain	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital coronary artery sclerosis	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Ectromelia	Associated morphology	False	dysgenese	Inferred relationship	Some
Cerebellar aplasi	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Tenney changes of placenta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital diverticulum of bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ectopic glial tissue	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Brachydactyly	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital stenosis of vagina affecting pregnancy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital stenosis of vagina affecting pregnancy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of male genital system	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of male genital system	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital coloboma of optic disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Longitudinal deficiency of ulna	Associated morphology	False	dysgenese	Inferred relationship	Some
Dubin-Johnson syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital fusion of testis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital fusion of testis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Madelung's deformity	Associated morphology	False	dysgenese	Inferred relationship	Some
Partial aphalangia of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Manus cava	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital cardiospasm	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Reduction deformity of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Ruvalcaba-Myhres syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some
Acquired genu recurvatum	Associated morphology	False	dysgenese	Inferred relationship	Some
Female infertility due to structural congenital anomaly of vagina	Associated morphology	False	dysgenese	Inferred relationship	Some
kongenit anomali i pancreas	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital duplication of gallbladder	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Septate vagina (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of bile ducts	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital absence of femur	Associated morphology	False	dysgenese	Inferred relationship	Some
kongenit forkortet ben	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of humerus	Associated morphology	False	dysgenese	Inferred relationship	Some
Manus vara	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anisocoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital absence of finger	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital dislocation of hip	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital pseudoporencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital macrodactyly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some
Metatarsus varus	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital hypertrophic pyloric stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Accessory fallopian tube	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Roberts-SC phocomelia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Præmatur abnorm placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Brachymetapodia	Associated morphology	False	dysgenese	Inferred relationship	Some
Diastematomyeli	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Microgyria	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of gallbladder	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Disto-occlusion of teeth	Associated morphology	False	dysgenese	Inferred relationship	Some	1
FG syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital atresia of bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Sinus pericranii	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ectopic testis	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ectopic testis	Associated morphology	False	dysgenese	Inferred relationship	Some	2

Start Previous Page 10 of 73 Next End

Reference Sets

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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)