69106008: Congenital failure of fusion with herniated tissue (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit sammenvoksningsdefekt med hernie	Is a	kongenit manglende sammenvoksning	false	Inferred relationship	Some
kongenit sammenvoksningsdefekt med hernie	Is a	kongenit protrusion	false	Inferred relationship	Some
kongenit sammenvoksningsdefekt med hernie	Is a	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Nasal encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Nasal encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Kongenit spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Kongenit spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Kranielt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Kranielt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Repair of meningoencephalocele	Direct morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Repair of meningoencephalocele	Direct morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Torakalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Torakalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Spina bifida of lumbar region	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Congenital cerebral meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
[X]Encephalocele of other sites	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Spinalt meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Cervical spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Temporal encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Meningoencephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Congenital spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Hydrencefalomeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Frontoethmoidal encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Parietal encephalocele (disorder)	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Encephalocele of orbit	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Frontal encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
myelomeningocele/myelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Hydromeningomyelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Kongenit endaural hernie	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Congenital cerebral hernia	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Hydroencefalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Occipital encephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
encefalocele med anden specificeret lokalisation	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Encefalocele, ikke nærmere specificeret	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Encephalomyelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Congenital sacral meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Repair of encephalocele (procedure)	Direct morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
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	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Encephalocystocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Cervikalt spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Spinalt meningocele uden specificeret lokalisation	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Thoracic spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Lumbar spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Spinalt meningocele, ikke nærmere specificeret	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Myelocele, ikke nærmere specificeret	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Spinalt meningocele, ikke nærmere specificeret	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Spinalt meningocele uden specificeret lokalisation	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Myelocele uden specificeret lokalisation	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Spinalt meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Thoracic spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Thoracic myelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	4
Lumbar spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Cervical spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Lumbar myelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	4
Cervical myelocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	4
Cervikalt spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Encephalocele of vertex (disorder)	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Encephalocele of vertex (disorder)	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Myelocele with hydrocephalus	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Cervikalt spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	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	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	8
Congenital laryngocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Congenital laryngocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Congenital spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	6
Kongenit spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	9
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	6
Thoracic spinal meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
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	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	5
Encephalocystocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	3
Encephalocele of orbit	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Kongenit spinalt hydromeningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	5
Congenital cerebral meningocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	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	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	5
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	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	1
Meningoencephalocele	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	2
Myelocele with hydrocephalus	Associated morphology	False	kongenit sammenvoksningsdefekt med hernie	Inferred relationship	Some	4

Start Previous Page 3 of 3

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
114782016	Congenital failure of fusion with herniated tissue	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
114783014	Congenital defective closure with herniation of tissue	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809015018	Congenital failure of fusion with herniated tissue (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3072861000005117	kongenit sammenvoksningsdefekt med hernie	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)