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
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Ventricular septal defect with malaligned outlet septum to left	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Thoracic spina bifida with hydrocephalus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Fissured spine with hydrocephalus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Double outlet left ventricle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Hydrencephalomeningocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
hydroméningocèle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
hydroméningocèle crânienne congénitale	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Thoracic hydromeningocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Complete transposition of great vessels	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Open enlargement of defect of interventricular septum (procedure)	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Enlargement of restrictive ventricular septal defect	Direct 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	3
Congenital split right ear lobe	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital split left ear lobe	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Iniencephaly	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Iniencephaly - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Iniencephaly - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital failure of fusion between maxillary and mandibular processes (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Dandy-Walker syndrome with spina bifida	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital split ear lobe (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Discordant ventriculoarterial connection	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	3
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Repair of myelomeningocele greater than 5 centimeters in diameter (procedure)	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of spinal myelomeningocele using free flap	Direct morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thompson operation, cleft lip repair	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of spinal myelomeningocele using local flap	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of myelomeningocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of spinal myelomeningocele using distant flap	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Closure of cleft foot	Direct morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
hydromyéloméningocèle	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard palate with cleft lip, bilateral	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Complete bilateral cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral incomplete cleft palate with cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Complete cleft of hard palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Split spinal cord malformation (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Incomplete bilateral cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Incomplete bilateral cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral complete and incomplete cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate and bilateral cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Incomplete cleft palate (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral complete cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Complete bilateral cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cranioplasty with synchronous repair of encephalocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cranioplasty with synchronous repair of encephalocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Repair of encephalocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital spinal meningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Nasal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Nasal encephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Nasofrontal encephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Lumbar spinal meningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of meningoencephalocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Repair of meningoencephalocele	Direct morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Temporal encephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbar meningomyelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Parietal encephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital cerebral meningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Myelocele with hydrocephalus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Encephalomyelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Nasopharyngeal encephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
hernie endo-auriculaire congénitale	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida of lumbar region	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Meningomyelocele of lumbosacral spine (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Thoracic spinal meningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervical myelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital cerebral hernia	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
hydroméningocèle crânienne congénitale	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Encephalocele of vertex (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Frontal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lipomyelomeningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Encephalocele of orbit	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1

Start Previous Page 10 of 13 Next End

This concept is not in any reference sets

Back to Start

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