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
Congenital protrusion	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital protrusion	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital protrusion	Is a	Protrusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital protrusion	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
hydroméningocèle crânienne congénitale	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Retinal detachment and occipital encephalocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Thoracic spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cervical spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Lumbar spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital mesocolic hernia (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Maxillary prognathism	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital prognathism	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mandibular prognathism	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital spinal meningocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hydrocephalus due to Arnold Chiari malformation type 2	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cervical spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Lumbar spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital spinal hydromeningocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Shprintzen Goldberg omphalocele syndrome	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Lethal omphalocele with cleft palate syndrome (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	11
Congenital sacral meningocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Thoracic spinal meningocele (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Capra DeMarco syndrome	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital sacral meningocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Myelomeningocele and hydrocephalus	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Repair of lipomeningocele (procedure)	Direct morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial omphalocele syndrome with facial dysmorphism (disorder)	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Retinal detachment and occipital encephalocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Nasal encephalocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Capra DeMarco syndrome	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cerebral meningocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nasofrontal encephalocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nasopharyngeal encephalocele	Associated morphology	False	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Zechi Ceide syndrome	Associated morphology	False	Congenital protrusion	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	Congenital protrusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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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
9204016	Congenital protrusion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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