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
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft soft palate with left cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Secondary lens coloboma (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hand with syndactyly	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Primary lens coloboma (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital cleft of cardiac valve	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hand with polydactyly	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft hard and soft palate with right cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft hard and soft palate with right cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
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	3
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral incomplete cleft palate with cleft lip	Associated morphology	False	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	1
Central complete cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hard and soft palate with left cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft hard and soft palate with left cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
syndrome d'Okamoto	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate with right cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Central complete cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Central complete cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral complete cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral complete cleft palate with cleft lip	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of optic disc	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Giant ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida of dorsal region (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbar myelocystocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Tetralogy of Fallot with atresia of pulmonary valve (disorder)	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	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed subarterial ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
An exceedingly rare association characterized by cleft lip and progressive retinopathy.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Opitz-Frias syndrome	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft leaflet of tricuspid valve	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed subarterial ventricular septal defect with membranous septum extension	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Roger's disease	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Hologastroschisis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft uvula	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Complete bilateral cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Complete bilateral cleft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft soft palate with right cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital cleft of posterior cricoid cartilage	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Spina bifida	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Myeloschisis	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Incomplete great vessel transposition	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cervical spina bifida with hydrocephalus - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cervical spina bifida with hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Van der Woude syndrome	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Pentalogy of Fallot	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Secondary lens coloboma (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Primary lens coloboma (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Tetralogy of Fallot with absent pulmonary valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cervical myelocystocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Thoracic myelocystocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Rachischisis with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cervical spina bifida without hydrocephalus - closed	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Ventricular septal defect with malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Ventricular septal defect with malaligned outlet septum to right	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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

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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