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
Spina bifida of cervical region	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Arachnoidea-/ependymacyste	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Notomelus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Klippel-Feil sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Klippel-Feil sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Benign congenital hypotonia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Læbehypertrofi	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ventricular septal defect due to and following infective endocarditis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital bent rib	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Diplopodia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Transversel ameli af arm på underarmsniveau	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of nose	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Beaked pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lacrimal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Syringomyelobulbi	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital corneal opacity not interfering with vision	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Kongenit tommel-springfinger	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Trabecular dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malposition of radius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rotated penis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ash leaf spot, tuberous sclerosis	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Lack of ossification of calcaneus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital inversion of nipple	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Kongenit ledstivhed med myopati	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Eichsfeld type congenital muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Post-infarction ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of fibula (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Prepapillary vascular loop (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Prepapillary vascular loop (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Undescended testes - bilateral	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital overgrowth of foot	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Patent ductus arteriosus - persisting type	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of lacrimal drainage system (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital ectropion	Associated morphology	False	dysgenese	Inferred relationship	Some	2
brankialfure, -cyste eller -fistel; præaurikulær sinus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
brankialfure, -cyste eller -fistel; præaurikulær sinus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
X-linked limb girdle muscular dystrophy with normal dystrophin	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital protrusion of tongue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cryptophthalmos (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Madelung's deformity	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mondini defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dolichocolon	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital elevation of scapula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of rib	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of clavicle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hooded penis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Neurenterisk cyste	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Embryonal nuclear cataract	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital hyperplasia of muscle	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Accessory liver	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of clitoris (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital diverticulum of trachea	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Syringobulbia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital eventration of diaphragm	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital overgrowth of whole lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of nervous system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of femur	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Patent ductus arteriosus with normal origin and insertion (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Atresia and stenosis of large intestine, rectum and anal canal	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Kongenitte katarakt- eller linseanomalier	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Dysplasia of lung	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Myotubular myopathy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Supernumerary canaliculus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ventricular septal defect with malaligned outlet septum to left	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Straight back syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital tracheal collapse (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duplication of whole limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Rubella cataract	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hemimyelia	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital synostosis of lower limb bones	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Failure of soft tissue differentiation of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to all right ventricular components	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital melanosis of sclera	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Henck-Assmans sygdom	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bronchopulmonary isomerism	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Præaurikulær sinus og fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Peters plus syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital fold and cyst of posterior segment of eye (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Neuronal choristoma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Riedel's lobe of liver	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital bent scapula	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right bronchial isomerism (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Meningoencephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Distichiasis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Craniorachischisis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital arthrogryposis caused by teratogen (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Retinal arteriovenous malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of choroid	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital diaphragmatic hernia	Associated morphology	False	dysgenese	Inferred relationship	Some	5

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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)