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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
Complete cleft of left hard and soft palate (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete cleft of left hard and soft palate (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital chorioretinal coloboma of bilateral eyes (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterised by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
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) 3
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) 4
Complete left cleft lip and incomplete right cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete left cleft lip and incomplete right cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete right cleft lip and incomplete left cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete right cleft lip and incomplete left cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
True cleft of common atrioventricular valve leaflet Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Iniencephaly - open Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Split spinal cord malformation type I Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic retinal disorder characterised by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic retinal disorder characterised by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology True 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 True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior meningocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Repair of spinal meningocele using free flap (procedure) Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Repair of spinal meningocele using local flap Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Repair of spinal meningocele using distant flap Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Repair of meninges of spinal meningocele Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Central basal perimembranous ventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Colobomatous cyst of orbit Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital laryngotracheoesophageal cleft Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Incomplete cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Meningoencephalocele of orbit (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atrioventricular septal defect (disorder) Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated encephalocele 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) 8
Occipital encephalocele Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital split of bilateral ear lobes (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital split of bilateral ear lobes (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cranioplasty with synchronous repair of encephalocele Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Closure of defect of atrioventricular septum with surgical patch and repair of cleft of mitral valve (procedure) Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Closure of defect of atrioventricular septum with surgical patch and repair of cleft of tricuspid valve (procedure) Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Closure of true atrioventricular valve cleft Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Closure of true tricuspid cleft Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Closure of true mitral cleft Direct morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Left split foot Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right split foot (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Right split hand Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Left split hand (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Os acromiale of bilateral scapulae (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Os acromiale of bilateral scapulae (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip with nasal deformity (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Limited dorsal myeloschisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-saccular limited dorsal myeloschisis (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Saccular limited dorsal myeloschisis (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-terminal myelocystocele (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Transitional atrioventricular septal defect (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3

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