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25393007: Congenital deviation (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
    42582014 Congenital deviation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42585011 Developmental deviation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    755705017 Congenital deviation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42582014 Congenital deviation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    42582014 Congenital deviation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42585011 Developmental deviation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    42585011 Developmental deviation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    755705017 Congenital deviation (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    755705017 Congenital deviation (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 deviation Is a Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital medial deviation Is a False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital forward deviation Is a False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital backward deviation Is a False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital lateral deviation Is a False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept)
    Clinodactyly with delta phalanx Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Clinodactyly, with no delta phalanx (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Posterior lingual occlusion of mandibular teeth (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Posterior crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Reverse posterior crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Posterior buccal occlusion of mandibular teeth Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital clinodactyly Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Anterior crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital deviation of ureter Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital deviation of nasal septum Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Buccal crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lingual crossbite Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital displacement of punctum lacrimale Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Reverse posterior crossbite, single tooth Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Reverse posterior crossbite, multiple teeth Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Crossbite unspecified Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Midline deviation of dental arch Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dental midlines coincident and incorrect Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ebstein's anomaly Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of right atrioventricular valve Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of left atrioventricular valve (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital displacement of punctum lacrimale Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of right atrioventricular valve Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Clinodactyly, with no delta phalanx (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dental midlines coincident and incorrect Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital deviation of ureter Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital clinodactyly Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Clinodactyly with delta phalanx Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital displacement of punctum lacrimale Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of left atrioventricular valve (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Midline deviation of dental arch Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Anterior deviation of infundibular septum of Fallot type (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Posterior deviation of infundibular septum of obstructive aortic arch type (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Anterior deviation of infundibular septum of Fallot type (disorder) Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital deviation of ureter Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital deviation of nasal septum Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 4
    Maxillary prognathism Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital prognathism Associated morphology False Congenital deviation Inferred relationship Existential restriction modifier (core metadata concept) 1
    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 deviation Inferred relationship Existential restriction modifier (core metadata concept) 3

    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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