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 diaphragmatic hernia	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Ullrich congenital muscular dystrophy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Situs inversus with levocardia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Brachypellic pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
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	1
Posterior fossa arachnoid cyst (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Incomplete formation of bony cochlea	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cystic malformation of posterior fossa (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
kongenit hemihypertrofi	Is a	False	dysgenese	Inferred relationship	Some
Congenital anomaly of tarsal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of spleen	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Preaxial polydactyly of toe	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of metatarsal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vitelline duct polyp (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
bilateral kryptorkisme	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of spine	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Extrapulmonary subpleural pulmonary sequestration	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of cricoid cartilage	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pharyngeal polyp	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cleft hand with syndactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital bent hyoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of radius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of endocrine ovary (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete ossification of vomer	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Intralobar bronchopulmonary sequestration	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hexadactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supernumerary liver lobe (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling	Associated morphology	False	dysgenese	Inferred relationship	Some	8
Congenital macrocheilia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Leri-Weill dyschondrosteosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
22q11 microdeletion with complete DiGeorge sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Decreased anogenital distance	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Transverse deficiency of hand	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Sinus of branchial cleft (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pseudo-polycoria	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital splenomegaly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lack of ossification of centrum of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Misplaced ear	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital branched rib cartilage	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bronchial stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Overgrowth of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hypopigmentation of choroid	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of perineum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kranielt hydromeningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Kranielt hydromeningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Radial polydactyly Wassel 3	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pseudoarthrosis of tibia (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of humerus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of ilium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Reduktion af hypothalamusanomali	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital fusion of labia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kongenit ovariecyste	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tongue absent	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of body wall	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duplication of whole upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malposition of liver	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital palato-oesophageal incoordination	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Branchial cleft cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of lower respiratory system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital humeral varus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cleft of thymus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Floating gallbladder	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Subarterial ventricular septal defect (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital porencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of posterior segment of eye	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fordyce spots of buccal mucosa (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Clinodactyly, with no delta phalanx	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malposition of trachea	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Membranous ventricular septum defect	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Multi-core congenital myopathy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rudimentary digit (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Overgrowth of partial upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
brankiogent rudiment	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Holoanencephaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Thoracic spina bifida with hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Thoracic spina bifida with hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Muscular ventricular septal defect in outlet septum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Residual ventricular septal defect (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Acquired excessive restriction of ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of arch of thoracic vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Genu recurvatum and long leg bone bowing	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital diverticulum of bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Female pseudohermaphroditism	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Discontinuous rib	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mesatipellic pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
atresi af ossøs del af meatus acusticus externus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of optic disc	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of duodenum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of body cavity	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Central nervous system malformation in fetus affecting obstetrical care (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Duplication of upper limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of penis	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)