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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital failure of fusion	Is a	anomalie congénitale	false	Inferred relationship	Some
Congenital failure of fusion	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital failure of fusion	Is a	anomalie du développement	false	Inferred relationship	Some

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	Some	2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Subarterial ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Membranous ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Common atrioventricular-type ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Common atrioventricular-type ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Muscular ventricular septal defect in outlet septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Residual ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Acquired excessive restriction of ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Restrictive ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Perimembranous ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Ventricular septal defect with malaligned outlet septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Pentalogy of Fallot	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Pulmonary atresia with ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Muscular ventricular septal defect in trabecular septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Confluent muscular ventricular septal defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Tetralogy of Fallot with atresia of pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Muscular ventricular septal defect in inlet septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	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	Some	1
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Doubly committed ventricular septal defect in double outlet ventriculoarterial connection (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Multiple muscular ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Ventricular septal defect with malaligned outlet septum to right	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Spina bifida of lumbar region	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Recurrent ventricular component of atrioventricular septal defect after prior cardiovascular surgical procedure (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Multiple ventricular septal defects	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Traumatic interventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Muscular ventricular septal defect in central trabecular septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Ventricular septal defect of inlet of right aspect of ventricular septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Supracristal ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Tetralogy of Fallot	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Atrial septal defect with endocardial cushion defect, partial type	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Giant ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Muscular ventricular septum defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular outlet	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Ventricular septal defect	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Single muscular ventricular septum defect (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Tetralogy of Fallot with absent pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	1
Muscular ventricular septal defect in marginal septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Roger's disease	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Perimembranous ventricular septal defect with extension to right ventricular inlet	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Muscular ventricular septal defect in apical trabecular septum	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Doubly committed subarterial ventricular septal defect with membranous septum extension	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Complete cleft hard and soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Cleft of soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft soft palate, bilateral	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Complete cleft of soft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Incomplete cleft of soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft lip and cleft of alveolar process of maxilla (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Cleft of hard palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Incomplete bilateral cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Cleft hard and soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft hard palate, central	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft hard palate, bilateral	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Incomplete cleft hard and soft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Occult submucous cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Central incomplete cleft palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	6
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Cleft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Cleft of primary palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Bilateral cleft of primary palate	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft hard and soft palate with cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	5
Cleft hard and soft palate with cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	3
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	6
Delayed membranous cranial ossification (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	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	Some	4
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	False	Congenital failure of fusion	Inferred relationship	Some	6
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	False	Congenital failure of fusion	Inferred relationship	Some	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	Some	6
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized 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	Some	7
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized 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	Some	9
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	10
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	11
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	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	Some	13
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	9
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Some	8
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	False	Congenital failure of fusion	Inferred relationship	Some	3
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	False	Congenital failure of fusion	Inferred relationship	Some	4
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	False	Congenital failure of fusion	Inferred relationship	Some	5
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	False	Congenital failure of fusion	Inferred relationship	Some	6

Start Previous Page 12 of 13 End

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

Back to Start

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