371520008: Developmental failure of fusion (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\...

\Mechanical abnormality\Mechanical lesion\Failure of fusion (morphologic abnormality)\Developmental failure of fusion (morphologic abnormality)

\Lesion (morphologic abnormality)\Mechanical lesion\Failure of fusion (morphologic abnormality)\Developmental failure of fusion (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1196819011 Developmental failure of fusion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1210156016 Developmental failure of fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental failure of fusion (morphologic abnormality)	Is a	anomalie du développement	false	Inferred relationship	Some
Developmental failure of fusion (morphologic abnormality)	Is a	Defect	false	Inferred relationship	Some
Developmental failure of fusion (morphologic abnormality)	Is a	Mechanical lesion	false	Inferred relationship	Some
Developmental failure of fusion (morphologic abnormality)	Is a	Failure of fusion (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Endocardial cushion defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Abnormal ventriculoarterial connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Single ventricular outlet above both ventricles (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Right sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk with obstruction of aortic arch (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Transposition of aorta	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Double outlet right ventricle with subaortic ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Atrial septal defect with endocardial cushion defect, partial type	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
D - transposition of the great vessels (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet from ventricle of indeterminate morphology	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Corrected transposition of great vessels	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Single outlet ventriculoarterial connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Anomalous origin of right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left coronary artery from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Incomplete great vessel transposition	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with doubly committed ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Muscular ventricular septal defect in marginal septum	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with noncommitted ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Atrioventricular septal defect - isolated atrial component	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Ostium primum defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Ostium primum defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pilotto syndrome	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pilotto syndrome	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Coloboma of lens	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft palate with left cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Spina bifida of sacral region (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
L - transposition of the great vessels (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Absent atrioventricular connection with straddling valve	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft leaflet of mitral valve	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Central incomplete cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Supracristal ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida of cervical region	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Subarterial ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital cleft of thymus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Solitary arterial trunk	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect of inlet of right aspect of ventricular septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Atrial septal defect with endocardial cushion defect, partial type	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Restrictive ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida of lumbar region	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cheilognathouranoschisis	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Coloboma of eyelid	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Celoschisis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Residual ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Multiple ventricular septal defects	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Tetralogy of Fallot	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Congenital failure of fusion between maxillary and mandibular processes (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Thoracic spina bifida with hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Laryngeal cleft type I	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Complete cleft hard and soft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Complete cleft hard and soft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Congenital cleft hand	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Laryngeal cleft type II	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Split foot	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Laryngeal cleft type III	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Incomplete bilateral cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
D - transposition of the great vessels (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Spina bifida with stenosis of aqueduct of Sylvius	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hand - first cleft	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Laryngeal cleft type IV	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Spina bifida with hydrocephalus of late onset	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital cleft thyroid cartilage	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hard palate with left cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hard palate with right cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spondyloschisis	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hand - central	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pulmonary atresia with ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
1196819011	Developmental failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1210156016	Developmental failure of fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core