61989004: Congenital prolapse (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit prolaps	Is a	kongenit fejlstilling	false	Inferred relationship	Some
kongenit prolaps	Is a	Prolapse	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital prolapsed rectum	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of urinary bladder	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of urethra	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Kongenit ptose i øvre øjenlåg	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapsed uterus	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital ptosis (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital myogenic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital dysgenetic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital dysgenetic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital ptosis (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of urinary bladder	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapsed rectum	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapsed uterus	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital myogenic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of urethra	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Prolapse of Eustachian valve through tricuspid valve (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of aortic valve (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Prolapse of Eustachian valve	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Prolapse of Eustachian valve through atrial septum (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital prolapse of aortic valve (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapsed rectum	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapsed uterus	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapse of urethra	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapse of urinary bladder	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapse of mucous membrane of urinary bladder	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Congenital prolapse of urinary meatus (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	1
Congenital myogenic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	3
Congenital ptosis (disorder)	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	3
Congenital dysgenetic ptosis	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	4
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	3
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	4
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	5
A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	3
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	3
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2
A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.	Associated morphology	False	kongenit prolaps	Inferred relationship	Some	2

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
103045018	Congenital prolapse	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103048016	Congenital ptosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801111010	Congenital prolapse (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4452981000005112	kongenit prolaps	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)