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371520008: 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
1196819011 Developmental failure of fusion (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3039606011 Dysraphia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3039606011 Dysraphia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3039646017 Dysraphism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3039646017 Dysraphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3039705019 Congenital cleft en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3039705019 Congenital cleft en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3039859010 Congenital imperfect closure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3039859010 Congenital imperfect closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040065016 Congenital defective closure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040065016 Congenital defective closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040145013 Dysrhaphism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040145013 Dysrhaphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040151015 Congenital fissure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040151015 Congenital fissure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040249012 Congenital incomplete closure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040249012 Congenital incomplete closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040329018 Dysrhaphia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040329018 Dysrhaphia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3040347012 Congenital failure of fusion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3040347012 Congenital failure of fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Developmental failure of fusion (morphologic abnormality) Is a Defect false Inferred relationship Existential restriction modifier (core metadata concept)
Developmental failure of fusion (morphologic abnormality) Is a Mechanical lesion false Inferred relationship Existential restriction modifier (core metadata concept)
Developmental failure of fusion (morphologic abnormality) Is a Failure of fusion true Inferred relationship Existential restriction modifier (core metadata concept)

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 Existential restriction modifier (core metadata concept) 1
Frontoethmoidal encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Meningoencephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Meningoencephalocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital spinal hydromeningocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
fente nasale congénitale Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bifid nose (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Meningomyelocele (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetal spina bifida (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal detachment and occipital encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Nasofrontal encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Nasopharyngeal encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Occipital encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical spinal hydromeningocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Lumbar myelocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital laryngocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalocystocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical spinal meningocele (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Faun tail syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cervical meningomyelocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic meningomyelocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervical hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracic hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Lumbar hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Schizencephaly Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Double outlet right ventricle with doubly committed ventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniorachischisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pancreas divisum - complete (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pancreas divisum - incomplete (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
hydromyélocèle Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Muscular ventricular septal defect in trabecular septum (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pancreas divisum Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetal cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Meningomyelocele of lumbosacral spine (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Eisenmenger ventricular septal defect Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Basal encephalocele (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma of bilateral maculae (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma of bilateral maculae (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral coloboma of lens Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral coloboma of lens Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital coronal cleft of vertebra (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital coloboma of right lens (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of left lens Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of right eyelid (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of bilateral optic discs (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of bilateral optic discs (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital coloboma of left optic disc Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of right optic disc Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of left eyelid Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbar hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cervical hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracic hydromyelocele Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous inlet ventricular septal defect with atrioventricular septal malalignment (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Inferior muscular trabecular ventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Temporal encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Parietal encephalocele (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Zechi Ceide syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Retinal detachment and occipital encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Outlet ventricular septal defect with posteriorly malaligned outlet septum Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Perimembranous outlet ventricular septal defect with anteriorly malaligned outlet septum (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Outlet ventricular septal defect with anteriorly malaligned outlet septum Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Doubly committed juxta-arterial outlet ventricular septal defect with perimembranous extension (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Anterior muscular trabecular ventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Perimembranous inlet ventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Perimembranous outlet ventricular septal defect with posteriorly malaligned outlet septum (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular ventricular septal defect opening to right ventricular inlet Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic myelocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Acrocardiofacial syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of bilateral eyelids Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital coloboma of bilateral eyelids Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cervicothoracic spina bifida aperta with hydrocephalus Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cervicothoracic spina bifida aperta with hydrocephalus Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cervicothoracic spina bifida aperta Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cervicothoracic spina bifida aperta Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cheilognathoprosoposchisis Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital macrostomia (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip sequence (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Central cleft lip Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Central complete cleft palate with cleft lip Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Central incomplete cleft palate with cleft lip (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cheilognathouranoschisis Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate with cleft lip Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital macrostomia Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral complete and incomplete cleft lip Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3

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