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
Podencephalus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intracardiac location of anomalous pulmonary venous connection (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital maxillary asymmetry	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of palatine bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital wooly hair (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital blind loop syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of premaxilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
hydranencéphalie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Common arterial trunk with isolated pulmonary artery (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Double aortic arch with unilateral atresia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of pituitary gland	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Parallel course of aorta and pulmonary artery (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Café-au-lait macules with pulmonary stenosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
sinus péricrânien	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Inferior vena cava connecting to right atrium and left atrium (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome des cheveux incoiffables	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Encephalocystocele (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Sjögren-Larsson syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of face (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Genitoperineal raphe cyst	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Persistent cloaca	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Rudimentary uterus in male	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of anus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Port-wine stain with associated anomalies (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomalous course of coronary artery anterior to pulmonary trunk (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
transposition totale des gros vaisseaux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Jackson's membrane	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of exoccipital bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
encéphalocèle frontal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormality of nose and nasopharynx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Circumflex runs posterior to pulmonary trunk	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Single coronary artery dividing into right coronary artery and left coronary artery (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Tuberous sclerosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Capillary-venous malformation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital scar	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Coarctation of left pulmonary artery (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Left aortic arch and right descending aorta	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery supplying entire left lung (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ventricular septal defect in Fallot's tetralogy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Incomplete ossification of premaxilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of alisphenoid bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Verrucous hemangioma of skin	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Double aortic arch with both patent	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Weber's true diffuse phlebarteriectasis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of exoccipital bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Angiokeratoma circumscriptum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ichthyosis hystrix	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomalous pulmonary venous drainage to right atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal dominant ichthyosis vulgaris	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery supplying unknown zone of distribution	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pharyngeal pituitary tissue	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Harlequin ichthyosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Encephalocele of orbit	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of pulmonary artery	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Abnormal coronary artery course	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of basisphenoid bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pili torti-deafness syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Peutz-Jeghers polyps of small bowel (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital cyst of adrenal gland	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Imperforate anus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomalous insertion of ductus arteriosus into pulmonary trunk (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
côlon redondant congénital (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Neonatal cutis laxa with marfanoid phenotype	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Neurofibromatosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Port-wine stain associated with spinal dysraphism (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Port-wine stain associated with spinal dysraphism (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital hypertrichosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital pulmonary arteriovenous aneurysm	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Crouzon syndrome with acanthosis nigricans (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital overgrowth of partial lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Aicardi's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Oculodento-osseous dysplasia - severe type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Humeroradial synostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Situs inversus thoracis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Polyorchism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of ocular adnexa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sirenoform monster	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital web of larynx (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital misalignment of arch of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
pseudoporencéphalie congénitale (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pancreatic duct anomaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malformation of angle of anterior chamber of eye	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Distal muscular dystrophy with juvenile onset	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Excessive restriction of ventricular septal defect as complication of procedure (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of visual system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Fibrous skin tumour of tuberous sclerosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Severe autosomal recessive muscular dystrophy of childhood - North African type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Known OR suspected fetal hydrocephalus affecting obstetrical care	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Schizencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital sclerocornea	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital sequestration of lung	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Brachymetapody (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital myopathy with abnormal subcellular organelles	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

Start Previous Page 17 of 73 Next End

Reference Sets

Canada English language reference set (foundation metadata concept)

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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