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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:

    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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital prolapse Is a Congenital malposition false Inferred relationship Some
    Congenital prolapse Is a Prolapse false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital prolapsed rectum Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of urinary bladder Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of urethra Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital ptosis of upper eyelid Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapsed uterus Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital ptosis (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital myogenic ptosis Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital dysgenetic ptosis Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital dysgenetic ptosis Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital ptosis (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of urinary bladder Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapsed rectum Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapsed uterus Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital myogenic ptosis Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of urethra Associated morphology False Congenital prolapse Inferred relationship Some 1
    Prolapse of Eustachian valve through tricuspid valve (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of aortic valve (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Prolapse of Eustachian valve (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Prolapse of Eustachian valve through atrial septum (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital prolapse of aortic valve (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapsed rectum Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapsed uterus Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapse of urethra Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapse of urinary bladder Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapse of mucous membrane of urinary bladder Associated morphology False Congenital prolapse Inferred relationship Some 2
    Congenital prolapse of urinary meatus (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 1
    Congenital myogenic ptosis Associated morphology False Congenital prolapse Inferred relationship Some 3
    Congenital ptosis (disorder) Associated morphology False Congenital prolapse Inferred relationship Some 3
    Congenital dysgenetic ptosis Associated morphology False Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse 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 Congenital prolapse Inferred relationship Some 2

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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