4541003: Congenital failure of fusion (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital failure of fusion	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital failure of fusion	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital failure of fusion	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Perimembranous ventricular septal defect with extension to all right ventricular components (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Subarterial ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Membranous ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Common atrioventricular-type ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Common atrioventricular-type ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Muscular ventricular septal defect in outlet septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Residual ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acquired excessive restriction of ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Restrictive ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Perimembranous ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect with malaligned outlet septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pentalogy of Fallot	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Pulmonary atresia with ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ventricular septal defect with malaligned outlet septum and overriding truncal valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Muscular ventricular septal defect in trabecular septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Confluent muscular ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetralogy of Fallot with atresia of pulmonary valve	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular ventricular septal defect in inlet septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Multiple muscular ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ventricular septal defect with malaligned outlet septum to right	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spina bifida of lumbar region (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recurrent ventricular component of atrioventricular septal defect after prior cardiovascular surgical procedure (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple ventricular septal defects	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Traumatic interventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Muscular ventricular septal defect in central trabecular septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ventricular septal defect of inlet of right aspect of ventricular septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Supracristal ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetralogy of Fallot	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrial septal defect with endocardial cushion defect, partial type (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Giant ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Muscular ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Perimembranous ventricular septal defect with extension to right ventricular outlet (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Single muscular ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Tetralogy of Fallot with absent pulmonary valve	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscular ventricular septal defect in marginal septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Roger's disease	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Perimembranous ventricular septal defect with extension to right ventricular inlet (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Muscular ventricular septal defect in apical trabecular septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pulmonary atresia with ventricular septal defect of Fallot type	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ventricular septal defect in Fallot's tetralogy (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Doubly committed subarterial ventricular septal defect with membranous septum extension	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Complete cleft hard and soft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft of soft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft soft palate, bilateral	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Complete cleft of soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Incomplete cleft of soft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft lip and cleft of alveolar process of maxilla (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft of hard palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Incomplete bilateral cleft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft hard and soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft hard palate, central	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft hard palate, bilateral	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Incomplete cleft hard and soft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Occult submucous cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Central incomplete cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft palate and bilateral cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft palate and bilateral cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft of primary palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Bilateral cleft of primary palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft hard and soft palate with cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft hard and soft palate with cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Delayed membranous cranial ossification (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Zlotogora Ogur syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Zlotogora Ogur syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
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	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	9
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	10
Shprintzen Goldberg omphalocele syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	11
Familial median cleft of upper and lower lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	13
Familial median cleft of upper and lower lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Abruzzo Erickson syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lethal omphalocele with cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Lethal omphalocele with cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised 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	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised 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	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised 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	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190350019	Congenital fissure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190351015	Congenital cleft	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190352010	Congenital defective closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190353017	Dysraphism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190354011	Dysraphia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190355012	Dysrhaphia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190356013	Dysrhaphism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1788026010	Congenital incomplete closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1788027018	Congenital imperfect closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core