371520008: Developmental failure of fusion (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\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

4427631000005117 udviklingsrelateret manglende sammenvoksning da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental failure of fusion (morphologic abnormality)	Is a	dysgenese	false	Inferred relationship	Some
Developmental failure of fusion (morphologic abnormality)	Is a	Defekt	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
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Frontoethmoidal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Meningoencephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Meningoencephalocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Kongenit spinalt hydromeningocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital cleft nose	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance with characteristics of 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 while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Meningomyelocele (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Fetal spina bifida (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Nasofrontal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Nasopharyngeal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Occipital encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervikalt spinalt hydromeningocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Lumbar myelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital laryngocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Encephalocystocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervical spinal meningocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Faun tail syndrome	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cervical meningomyelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic meningomyelocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervikalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Torakalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Lumbalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Schizencephaly	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Double outlet right ventricle with doubly committed ventricular septal defect	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Craniorachischisis	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pancreas divisum - complete (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Pancreas divisum - incomplete (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
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	1
Muscular ventricular septal defect in trabecular septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Pancreas divisum	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Fetal cleft lip (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
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
Meningomyelocele of lumbosacral spine (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Eisenmenger ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Basal encephalocele (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral coloboma of macula	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral coloboma of macula	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral coloboma of lens	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Bilateral coloboma of lens	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital coronal cleft of vertebra (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital coloboma of right lens (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of left lens (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of right eyelid (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of bilateral optic discs (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of bilateral optic discs (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Congenital coloboma of left optic disc	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of right optic disc (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of left eyelid (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Lumbalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cervikalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Torakalt hydromyelocele	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Inferior muscular trabecular ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Temporal encephalocele	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Parietal encephalocele (disorder)	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	4
Outlet ventricular septal defect with posteriorly malaligned outlet septum	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and posteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis Fallot type (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension and anteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed juxta-arterial outlet ventricular septal defect with posteriorly malaligned outlet septum	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Anterior muscular trabecular ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed juxta-arterial outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Perimembranous inlet ventricular septal defect (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Doubly committed juxta-arterial ventricular septal defect with anteriorly malaligned fibrous outlet septum and muscular postero-inferior rim	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder)	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Muscular ventricular septal defect opening to right ventricular inlet	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Thoracic myelocele	Associated morphology	True	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	3
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of bilateral eyelids	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Congenital coloboma of bilateral eyelids	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cervicothoracic spina bifida aperta with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cervicothoracic spina bifida aperta with hydrocephalus	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cervicothoracic spina bifida aperta	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	1
Cervicothoracic spina bifida aperta	Associated morphology	True	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cleft palate	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Cheilognathoprosoposchisis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Congenital macrostomia	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft lip sequence	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Central cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Central complete cleft palate with cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Central incomplete cleft palate with cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cheilognathouranoschisis	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft palate with cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
Cleft lip	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	2
Bilateral congenital macrostomia	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3
bilateral komplet og delvis læbespalte	Associated morphology	False	Developmental failure of fusion (morphologic abnormality)	Inferred relationship	Some	3

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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
4427631000005117	udviklingsrelateret manglende sammenvoksning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)