4919007: Congenital protrusion (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 protrusion	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit protrusion	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit protrusion	Is a	Protrusion	false	Inferred relationship	Some
kongenit protrusion	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kranielt hydromeningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	7
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 protrusion	Inferred relationship	Some	7
Thoracic spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Cervical spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Lumbar spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Congenital mesocolic hernia	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	1
Maxillary prognathism	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Congenital prognathism	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	4
Mandibular prognathism	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Congenital spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Hydrocephalus due to Arnold Chiari malformation type 2	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	2
Cervical spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	7
Lumbar spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	7
Kongenit spinalt hydromeningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	8
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	9
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	kongenit protrusion	Inferred relationship	Some	11
Congenital sacral meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Thoracic spinal meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	2
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	6
Congenital sacral meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	1
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	4
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	5
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	7
Repair of lipomeningocele (procedure)	Direct morphology	False	kongenit protrusion	Inferred relationship	Some	2
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.	Associated morphology	False	kongenit protrusion	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	False	kongenit protrusion	Inferred relationship	Some	3
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	3
Nasal encephalocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	1
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	3
Congenital cerebral meningocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	2
Nasofrontal encephalocele	Associated morphology	False	kongenit protrusion	Inferred relationship	Some	1
Nasopharyngeal encephalocele	Associated morphology	False	kongenit protrusion	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 protrusion	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	kongenit protrusion	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
9204016	Congenital protrusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9209014	Congenital hernia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9210016	Congenital herniation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9211017	Congenital evagination	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786841010	Congenital protrusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2609821000005111	kongenit protrusion	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)