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
Cleft of alveolar ridge (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Angioma serpiginosum	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital ringed hair	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital pulmonary artery conduit	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Isolation of branch of aortic arch (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of gastrointestinal tract (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal plantar creases	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormality of supraaortic branch of thoracic aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Developmental immaturity	Is a	False	dysgenese	Inferred relationship	Some
Ash leaf spot, tuberous sclerosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Anonychia with bizarre flexural pigmentation	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
manglende passage i oesophagus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bronchopulmonary collateral artery	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Autosomal dominant familial woolly hair	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital prognathism	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Coronary orifice asymmetrical	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Saddelnæse	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Persistent aortic arch convolutions	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Meckel's diverticulum	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Temporal encephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kongenit endaural hernie	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Aortic tunnel	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of squamosal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital maxillary hyperplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Microgenia	Associated morphology	False	dysgenese	Inferred relationship	Some	1
lokaliseret hudatrofi på abdominalvæggen	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Incomplete ossification of palatine bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of alisphenoid bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Retroesophageal aortic arch	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Total anomalous pulmonary venous return	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	1
Congenital portal-systemic shunt in which at least some portal blood perfuses the liver.	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lack of ossification of zygomatic bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal dermatoglyphic pattern	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital abnormalities of thoracic aortic branches	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital transverse mandibular hyperplasia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Right descending aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Branchiooculofacial syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Capillary malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Left dominant coronary system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of posterior pituitary	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of parathyroid glands	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Meningoencephalocele	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Distichiasis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Epidermodysplasia verruciformis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Netherton syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lack of ossification of mandible	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital transposition of azygos vein	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital portal-systemic shunt	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Autosomal dominant ichthyosis (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Common arterial trunk and widely separate origin of pulmonary arteries (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Total anomalous pulmonary venous connection to coronary sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Total anomalous pulmonary venous connection to hepatic vein	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Total anomalous pulmonary venous connection to right atrium (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Total anomalous pulmonary venous connection to superior vena cava	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Localized congenital cutis laxa (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double aortic arch	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital oculocutaneous hypopigmentation	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vascular malformation of the nervous system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Double aortic arch with left arch dominant (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous course of coronary artery through infundibular septum (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Incomplete ossification of vomer	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of skin	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Generalized congenital intestinal dysmotility (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Kongenitte misdannelsessyndromer, der afficerer ansigtsudseendet	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cutaneous lesion resulting from spina bifida (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous termination of right pulmonary vein	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anonychia	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Double aortic arch with right arch dominant (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Overriding aorta	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of cardiovascular system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Lamellar ichthyosis	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomaly of exoccipital bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Balanced coronary system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Collaterals to pulmonary arteries	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Bilateral closed ductus arteriosus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital cyst of esophagus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cutaneous lesion resulting from spinal dysraphism (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital macrognathism	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Anomalous pulmonary venous connection of mixed type with one pulmonary venous confluence (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous intramural course of proximal portion of coronary artery above aortic sinus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Embryonal rest AND/OR persistent embryonic structure	Is a	False	dysgenese	Inferred relationship	Some
Seckel syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Salmon patch naevus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Systemic to pulmonary collateral artery contributing to dual lung supply	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomaly of squamosal bone	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of the thyroid gland	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Anomalous course of coronary artery posterior to pulmonary trunk (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital coronary artery calcification	Associated morphology	False	dysgenese	Inferred relationship	Some	3
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vascular compression of esophagus by aberrant artery	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Neurofibromatosis type 1	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Persistent left superior vena cava	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)