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55661009: Congenital cavitation (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    92525012 Congenital cavitation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92530011 Congenital cavity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92531010 Congenital cystic dilatation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92532015 Congenital cystic malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    794061019 Congenital cavitation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92525012 Congenital cavitation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    92525012 Congenital cavitation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92530011 Congenital cavity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    92530011 Congenital cavity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92531010 Congenital cystic dilatation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    92531010 Congenital cystic dilatation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    92532015 Congenital cystic malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    92532015 Congenital cystic malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    794061019 Congenital cavitation (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    794061019 Congenital cavitation (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 cavitation Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital cavitation Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital cavitation Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital dilatation Is a False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital cystic dilatation with accumulation of fluid Is a False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital accumulation of fluid Is a False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept)
    Single congenital cerebral cyst Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Multiple congenital cerebral cysts Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic adenomatoid malformation of lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Single lung cyst Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital cerebral cyst (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Colloid cyst of third ventricle Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Polycystic kidney disease, infantile type Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Congenital choledochal cyst Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital porencephaly Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcystic renal disease Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital honeycomb lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cerebral cyst NOS Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital cystic lung disease, unspecified Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Other specified congenital cystic lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic lung NOS Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    [EDTA] Polycystic kidneys, infantile (recessive) associated with renal failure Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital honeycomb lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital porencephaly Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic lung NOS Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic lung disease, unspecified Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital cystic adenomatoid malformation of lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Other specified congenital cystic lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cystic malformation of posterior fossa (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dandy-Walker syndrome with spina bifida Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Dandy-Walker syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Posterior fossa arachnoid cyst (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Persistent Blake's pouch cyst Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Polycystic kidney disease, infantile type Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital porencephaly Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital cystic adenomatoid malformation of lung Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Dandy-Walker syndrome with spina bifida Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 8
    A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 15
    Pettigrew syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Pettigrew syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 9
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 10
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 7
    A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 11
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 8
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 5
    A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 10
    Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 5
    A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 7
    Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Posterior fossa arachnoid cyst (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Persistent Blake's pouch cyst Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Cystic malformation of posterior fossa (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 3
    A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 7
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Dandy-Walker syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Pettigrew syndrome Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 5
    A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 5
    Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology False Congenital cavitation Inferred relationship Existential restriction modifier (core metadata concept) 4

    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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