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
Developmental abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mirror hands	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital lip pits	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital lateral curvature of penis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
X-linked muscular dystrophy with abnormal dystrophin	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dumbbell-shaped cartilaginous centrum of lumbar vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital bronchopulmonary foregut malformation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Dumbbell-shaped cartilaginous centrum of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of blood vessel of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital diverticulum of lacrimal canaliculus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
dysplasie cranio-métaphysaire (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hitch-hiker thumb (finding)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Corneal size and shape anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital sutural cataract	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Neurofibromatosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital ectopia (morphologic abnormality)	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
syndrome de Dubowitz	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Myopathy with tubular aggregates	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital fusion of ribs	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital thickening of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydrencephalomeningocele (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy not predominantly limb girdle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Vertical orbital dystopia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Thumb in palm deformity	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embryonic cyst of ovary	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital keratoconus posticus circumscriptus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malposition of thymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of tongue	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Abnormal immature chorionic villi	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Craniometaphyseal dysplasia - mild type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Thoracolumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Thoracolumbar spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital combined form cataract (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital vascular anomaly of eyelid (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital vascular anomaly of upper eyelid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital blepharophimosis of upper eyelid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Complex craniosynostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Simple craniosynostosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of vulva in mother complicating pregnancy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hand-foot-genital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital cataracts, facial dysmorphism and neuropathy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Relative generalised macrodontia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Paravaginal cyst arising in mesonephric duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hutchinson's teeth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital diverticulum of stomach	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embryonic cyst of fallopian tube and broad ligament	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embryonic cyst of fallopian tube and broad ligament	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Foramen ovale valvar aneurysm	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectopic ureterocele	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of tongue, salivary gland AND/OR pharynx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital tracheobronchomegaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Straddling tricuspid valve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dentinogenesis imperfecta - Shield's type II	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of ureter (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of sternebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Posteromedial muscle band	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fatal congenital nonlysosomal heart glycogenosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Double aortic valve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Single ventricular outlet above left ventricle (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hyperplastic tooth follicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Fibrocystic kidney disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Amelogenesis imperfecta, hypomaturation type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Buccal crossbite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Imperforate vagina (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lethal glossopharyngeal defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cake kidney	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lateral openbite - right	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Anomalous valve of coronary sinus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Abnormal relationship of aortic orifice to pulmonary orifice	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Dentin dysplasia, type II	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital cyst of bladder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
kyste palatal du nouveau-né	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Single vessel of umbilical cord	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormality of liver and/or biliary tract (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Tubule of paroophoron	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Left sided atrium connecting to right ventricle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Mesonephric duct cyst of broad ligament (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital cleft of cardiac valve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Right ventricular outflow tract abnormality	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ebstein's anomaly with atrial septal defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Reverse posterior crossbite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Turner's tooth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Paired teeth microdontia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cor triloculare	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Spinal dysgenesis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital convoluted ureter	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Maxillary prognathism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital heart disease, septal and bulbar anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Double kidney AND/OR pelvis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core