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
Bilateral complete and incomplete cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	7
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
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	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	10
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	6
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	6
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	8
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
syndrome d'Okamoto	Associated morphology	False	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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.	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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
An exceedingly rare association characterized by cleft lip and progressive retinopathy.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	Developmental failure of fusion (morphologic abnormality)	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	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Cleft hard and soft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Cleft of hard palate and cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Right cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Left cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	6
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	3
Complete cleft of hard palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Incomplete cleft palate (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate and bilateral cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Bilateral cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Incomplete bilateral cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cheilognathoschisis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Complete bilateral cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Incomplete cleft hard and soft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Complete cleft hard and soft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Orofacial cleft (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Pilotto syndrome	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	6
Submucous cleft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Central cleft of soft palate (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Complete left cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Complete right cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Incomplete right cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Incomplete left cleft lip (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital macrostomia of left side of mouth (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital macrostomia of right side of mouth (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
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	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Cleft hard and soft palate with cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Congenital sagittal cleft of vertebra (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral split foot	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral split foot	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital split of bilateral hands (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital split of bilateral hands (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbosacral spina bifida aperta with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbosacral spina bifida aperta	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbosacral spina bifida aperta	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Lumbosacral spina bifida aperta with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Laryngeal cleft type 0	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	4
Thoracolumbosacral spina bifida aperta (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracolumbosacral spina bifida aperta (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Thoracolumbosacral spina bifida aperta (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Spina bifida aperta of upper thoracic spine (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus - open	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
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 partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracolumbar spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Thoracolumbar spina bifida with hydrocephalus - closed (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Meningomyelocele of lumbosacral spine (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	5
Cleft of right hard palate (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft of right hard palate (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft of left hard palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cleft of left hard palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Complete cleft of right hard and soft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Complete cleft of right hard and soft palate	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Complete cleft of right hard and soft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Complete cleft of left hard and soft palate (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Complete cleft of left hard and soft palate (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2

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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