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
Occult spinal dysraphism sequence	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Rhinocheiloplasty repair for cleft lip	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hard palate with cleft lip, bilateral	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital macrostomia of right side of mouth (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital macrostomia of left side of mouth (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital macrostomia	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral congenital macrostomia	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Otopalatodigital syndrome	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Otopalatodigital syndrome	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Coloboma of retina	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Coloboma of choroid and retina	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Coloboma of choroid and retina	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Solitary arterial trunk	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Common arterial trunk with pulmonary origin from truncal valve sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Truncus arteriosus, Edwards' type IV	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	1
Total great vessel transposition	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk with isolated pulmonary artery (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk with crossed over pulmonary arteries (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk and widely separate origin of pulmonary arteries (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Perimembranous ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet ventriculoarterial connections (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with intact ventricular septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Multiple muscular ventricular septum defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Absent right sided atrioventricular connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Single ventricular outlet above left ventricle (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Left ventricular-right atrial communication	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Confluent muscular ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Abnormal atrioventricular connection - biventricular	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to right of nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Abnormal ventriculoarterial connection with usual origin of left coronary artery from aortic sinus to right of nonfacing aortic sinus and usual origin of 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	1
Ambiguous atrioventricular connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Discordant ventriculoarterial connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Abnormal atrioventricular connection - univentricular	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Muscular ventricular septum defect	Associated morphology	False	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	1
Left sided atrium connecting to right ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet left ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Solitary pulmonary trunk with aortic atresia	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Single ventricular outlet above right ventricle (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Perimembranous ventricular septal defect with extension to right ventricular inlet	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital abnormality of cardiac connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Single muscular ventricular septum defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Abnormal atrioventricular connection (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Left sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Perimembranous ventricular septal defect with extension to right ventricular trabecular component	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Discordant atrioventricular connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Absent left sided atrioventricular connection	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Single inlet ventricle with absent atrioventricular connection (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	1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Two atrioventricular valves in double inlet ventricle (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Anomalous origin of right coronary artery and circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending artery from aortic sinus to left on nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Common truncus arteriosus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to right ventricular outlet	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Double outlet right ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk with aortic dominance (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Left sided atrium connecting to left ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Single ventricular outlet above ventricle of indeterminate morphology (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Common arterial trunk and separate origin of pulmonary arteries (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Univentricular atrioventricular connection with absent right sided atrioventricular connection (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Left sided atrium connecting to both ventricles	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Right sided atrium connecting to right ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Common arterial trunk and common origin of pulmonary arteries (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Perimembranous ventricular septal defect with extension to all right ventricular components (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Right sided atrium connecting to both ventricles	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Non-restrictive ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Endocardial cushion defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1

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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