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 anomaly of penis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Facioscapulohumeral muscular dystrophy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ulnar polydactyly of fingers	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ulnar og humeroulnar synostose	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Branchial cleft anomaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital blindness	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of gallbladder	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Cervical spina bifida with hydrocephalus - open	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Congenital thickening of ilium	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pelvis justo major	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Sacralization of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital lobar emphysema	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Type 2 lissencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Arthrogryposis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Rudimentary tracheal bronchus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Polymelia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital fusion of ossicles of ear	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dysgenesis of the brainstem	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital fissure of epiglottis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital corneal opacity with visual deficit	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Robert's pelvis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital tarsal kink (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital myogenic ptosis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal course of aortic arch (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dumbbell ossification of centrum of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Transverse arrest metacarpal second to fifth rays	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Polydactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Ovarian dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Sacral spina bifida without hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Lack of ossification of centrum of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vesicular appendix of ovary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of ear	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital branched rib	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of sacral vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of brain	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenitte folder i det posteriore segment	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of lung	Associated morphology	False	dysgenese	Inferred relationship	Some	2
anomali i cartilago cricoidea	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital misalignment of rib	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral trilobed lungs due to isomerism of right lung (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spondyloschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Becker muscular dystrophy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Intrauterine amputation of lower limb	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital non-progressive ataxia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
mangelfuld udvikling af cauda equina	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Restrictive ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Talipes calcaneovarus	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Manifesting female carrier of X-linked muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
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	3
Trifid tongue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Myopathy with cytoplasmic inclusions	Associated morphology	False	dysgenese	Inferred relationship	Some	2
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges.	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Sacral spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Sacral spina bifida with hydrocephalus - closed	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Congenital anomaly of sternocleidomastoid muscle	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital laryngeal adductor palsy	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of rib (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Midline cervical cleft (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Midline cervical cleft (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Midline cervical cleft (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Incomplete ossification of arch of lumbar vertebra	Associated morphology	False	dysgenese	Inferred relationship	Some	2
kongenit subglottisk sammenvoksning i larynx	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Sacral agenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Alacrima	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Myopathy with type I hypotrophy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of femur	Associated morphology	False	dysgenese	Inferred relationship	Some	2
celoskise	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Irido-trabecular dysgenesis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malposition of pubis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hanhart's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Severe X-linked myotubular myopathy (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hydromyelia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Oculopharyngeal muscular dystrophy	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Bifid tongue	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Acrosyndactyly of the fingers	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Coloboma of choroid	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital ovarian dysplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Barkan membrane	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of abdomen	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Osteopetrosis - delayed type	Associated morphology	False	dysgenese	Inferred relationship	Some	2
mellemøreanomali, eksklusive ossiklerne	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Hydromyelocele med hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Spina bifida without hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Spina bifida without hydrocephalus	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Congenital anomaly of retina	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Perimembranous ventricular septal defect	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Neurocutaneous syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Macropalpebral fissure	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Structural anomaly of the cochlea and vestibular labyrinth	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cordate pelvis	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)