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
Talocalcaneal coalition	Associated morphology	False	dysgenese	Inferred relationship	Some
Longitudinal deficiency of foot	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital anomaly of central nervous system	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of digestive organ	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital small optic disc with normal visual function	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of talus	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital coronary artery fistula to left atrium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital coronary artery fistula to left ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital coronary artery fistula to right atrium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital coronary artery fistula to right ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital absence of bile duct	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of iris	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Synechia vulvae	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete anencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kongenit manglende del af arm	Associated morphology	False	dysgenese	Inferred relationship	Some
Anomalous muscle bands of left ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital cleft hand	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of lobe of liver	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Uterus unicornis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Doubling of uterus with doubling of cervix and vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dysplastic ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital ovarian dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Embedded tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital absence of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Uterus cordiformis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital stricture of bile duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Associated morphology	False	dysgenese	Inferred relationship	Some
Kallmans syndrom hos kvinde	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital pyloric membrane	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital dislocation of knee with genu recurvatum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital duplication of uterus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Encephalocele of orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Premature tooth eruption	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital cerebellar hypoplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Imperforate vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital generalized flexion contractures of lower limb joints	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of pelvis and lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some
Manglende pelvis og underekstremitet	Associated morphology	False	dysgenese	Inferred relationship	Some
Cranial hydromeningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital spade-like hand	Associated morphology	False	dysgenese	Inferred relationship	Some
Talipomanus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Longitudinal deficiency of humerus	Associated morphology	False	dysgenese	Inferred relationship	Some
Incomplete congenital absence of thigh AND leg	Associated morphology	False	dysgenese	Inferred relationship	Some
Paravaginal cyst arising in mesonephric duct	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cerebellar cortical atrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Anodonti i blivende tænder og primære tænder	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Kongenit manglende ben inklusive fod OG tæer	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital absence of uterus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital clinodactyly	Associated morphology	False	dysgenese	Inferred relationship	Some
Fusion of teeth	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Polyorchism (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Polyorchism (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital subluxation of carpus	Associated morphology	False	dysgenese	Inferred relationship	Some
Mohr syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Associated morphology	False	dysgenese	Inferred relationship	Some
Trichorhinophalangeal syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some
Epispadias	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Epispadias	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Defective development of cauda equina	Associated morphology	False	dysgenese	Inferred relationship	Some	1
H-type congenital tracheoesophageal fistula	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Ovotestis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
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
Placenta reflexa	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital syphilitic hepatomegaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Immature abnormal placenta	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Placenta extrachorales	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital cerebral cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Longitudinal absence of radius AND ulna	Associated morphology	False	dysgenese	Inferred relationship	Some
Accessory carpal bones	Associated morphology	False	dysgenese	Inferred relationship	Some
Calcaneonavicular bar	Associated morphology	False	dysgenese	Inferred relationship	Some
Torsion of accessory fallopian tube	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cubitus varus	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital liver grooves	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of finger	Associated morphology	False	dysgenese	Inferred relationship	Some
Anisomelia	Associated morphology	False	dysgenese	Inferred relationship	Some
Ambiguous genitalia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double uterus affecting pregnancy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Accessory broad ligament	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Manus valga	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Single coronary artery	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Natal tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital valgus deformity of foot	Associated morphology	False	dysgenese	Inferred relationship	Some
Uterus bilocularis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Phocomelia	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital septation of gallbladder	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Longitudinal deficiency of phalanges of hand	Associated morphology	False	dysgenese	Inferred relationship	Some
Macrogyria (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vertical overbite	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital pes planus	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital stenosis of vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital stenosis of vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Metatarsus adductus	Associated morphology	False	dysgenese	Inferred relationship	Some
Congenital dislocation of glenohumeral joint	Associated morphology	False	dysgenese	Inferred relationship	Some
Anomaly of dental arch	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Meromikrosomi	Associated morphology	False	dysgenese	Inferred relationship	Some
Placenta circumvallata	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Iniencephaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Posterior open bite	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)