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
X-linked muscular dystrophy with abnormal dystrophin	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of metacarpal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital bronchopulmonary foregut malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	3
præaurikulær sinus, fordybning eller fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	2
præaurikulær sinus, fordybning eller fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	3
præaurikulær sinus, fordybning eller fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Dumbbell-shaped cartilaginous centrum of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of blood vessel of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital diverticulum of lacrimal canaliculus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Craniometaphyseal dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Hitch-hiker thumb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Corneal size and shape anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital sutural cataract	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital ectopia (morphologic abnormality)	Is a	False	dysgenese	Inferred relationship	Some
Dubowitz's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Myopathy with tubular aggregates	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital fusion of ribs	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital thickening of femur	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hydrencefalomeningocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy not predominantly limb girdle	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Vertical orbital dystopia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Thumb in palm deformity	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Embryonic cyst of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital keratoconus posticus circumscriptus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malposition of thymus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Benign skapuloperoneal muskeldystrofi med kardiomyopati	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of tongue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Craniometaphyseal dysplasia - mild type	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital combined form cataract	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital vascular anomaly of eyelid (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital vascular anomaly of upper eyelid	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital blepharophimosis of upper eyelid	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Nonsyndromic premature fusion of multiple sutures.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Nonsyndromic premature fusion of a single suture.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of vulva in mother complicating pregnancy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Hand-foot-genital syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital cataracts, facial dysmorphism and neuropathy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Relative generalised macrodontia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Paravaginal cyst arising in mesonephric duct	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hutchinson's teeth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital diverticulum of stomach	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Embryonic cyst of fallopian tube and broad ligament	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Embryonic cyst of fallopian tube and broad ligament	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Foramen ovale valvar aneurysm	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ectopic ureterocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of tongue, salivary gland AND/OR pharynx	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital tracheobronchomegaly	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Straddling tricuspid valve	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dentinogenesis imperfecta - Shield's type II	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of ureter	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Incomplete ossification of sternebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Posteromedial muscle band	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double aortic valve	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Single ventricular outlet above left ventricle (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hyperplastic tooth follicle	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Fibrocystic kidney disease	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Amelogenesis imperfecta, hypomaturation type	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Buccal crossbite	Associated morphology	False	dysgenese	Inferred relationship	Some	3
imperforeret vagina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Letal glossofaryngal defekt	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cake kidney	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Lateral openbite - right	Associated morphology	False	dysgenese	Inferred relationship	Some	5
anomal klap i sinus coronarius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal relationship of aortic orifice to pulmonary orifice	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Dentin dysplasia, type II	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital cyst of urinary bladder	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Palatal cyst of newborn (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
enkelt blodkar i navlesnoren	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of liver and/or biliary tract (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tubule of paroophoron	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Left sided atrium connecting to right ventricle	Associated morphology	False	dysgenese	Inferred relationship	Some	2
ductus mesonephricus-cyste på ligamentum latum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital cleft of cardiac valve (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right ventricular outflow tract abnormality (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ebstein's anomaly with atrial septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Reverse posterior crossbite	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Turner's tooth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Paired teeth microdontia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cor triloculare	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spinal dysgenesis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital convoluted ureter	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Maxillary prognathism	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital heart disease, septal and bulbar anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dobbelt nyre OG/ELLER bækken	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Lateral openbite	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital heart disease	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Uterus cordiformis	Associated morphology	False	dysgenese	Inferred relationship	Some	2

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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)