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385297003: Congenital deformity (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1459476014 Congenital deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1479549012 Congenital deformity en Synonym (core metadata concept) 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 deformity Is a anomalie congénitale false Inferred relationship Some
    Congenital deformity Is a Deformity false Inferred relationship Some
    Congenital deformity Is a Congenital abnormal shape false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hypoplasia of nasal cavity Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital absence of nasal septum Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital deformity of forehead Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypoplasia of nasal septum Associated morphology False Congenital deformity Inferred relationship Some 1
    Atresia of the posterior nares Associated morphology False Congenital deformity Inferred relationship Some 1
    Midline fissured, notched and cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Choanal atresia, unspecified Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital squashed or bent nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital nose deformity, unspecified Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital malposition of nasal septum (disorder) Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital deviation of nasal septum Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital absence of nasal bone Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypertrophy of nasal cavity Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital perforation of nasal septum Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital perforation of wall of nasal sinus Associated morphology False Congenital deformity Inferred relationship Some 2
    Other anomalies of nose NOS Associated morphology False Congenital deformity Inferred relationship Some 1
    Accessory nose Associated morphology False Congenital deformity Inferred relationship Some 2
    An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital stenosis of nares Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital stenosis of choanae Associated morphology False Congenital deformity Inferred relationship Some 3
    Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Associated morphology False Congenital deformity Inferred relationship Some 3
    Agenesis of nasal cartilages Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Choanal atresia Associated morphology False Congenital deformity Inferred relationship Some 3
    Choanal atresia NOS Associated morphology False Congenital deformity Inferred relationship Some 3
    Median nasal dermoid fistula Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital anomaly of nasal sinuses Associated morphology False Congenital deformity Inferred relationship Some 1
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 4
    Congenital abnormal shape of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital fissure of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    [X]Other congenital malformations of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital deformity of wall of nasal sinus Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital deformity of nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital malposition of nares Associated morphology False Congenital deformity Inferred relationship Some 2
    Nasal dermoid Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Other anomalies of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Underdevelopment of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital deformity of forehead Associated morphology False Congenital deformity Inferred relationship Some 2
    Cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital nose deformity, unspecified Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital absence of nasal bone Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Other anomalies of nose NOS Associated morphology False Congenital deformity Inferred relationship Some 1
    Accessory nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 3
    [X]Other congenital malformations of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Other anomalies of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Cleidocranial dysostosis Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital pseudoarthrosis of clavicle (disorder) Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital deformity of clavicle Associated morphology False Congenital deformity Inferred relationship Some 1
    Agenesis of clavicle Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital bent clavicle Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypoplasia of clavicle Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital thickening of clavicle Associated morphology False Congenital deformity Inferred relationship Some 1
    Incomplete ossification of clavicle Associated morphology False Congenital deformity Inferred relationship Some 1
    Lack of ossification of clavicle Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital deformity of lumbosacral region Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital deformity of lumbosacral joint Associated morphology False Congenital deformity Inferred relationship Some 1
    Accessory nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Accessory nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Cleft nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 2
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 3
    Other anomalies of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Other anomalies of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital nose deformity, unspecified Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital nose deformity, unspecified Associated morphology False Congenital deformity Inferred relationship Some 2
    Underdevelopment of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Underdevelopment of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    [X]Other congenital malformations of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    [X]Other congenital malformations of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Other anomalies of nose NOS Associated morphology False Congenital deformity Inferred relationship Some 1
    Other anomalies of nose NOS Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital notching of tip of nose Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 3
    Congenital bent nose (disorder) Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Congenital hypoplasia of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 1
    Congenital malposition of nose Associated morphology False Congenital deformity Inferred relationship Some 2
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 3
    Rhinocephaly Associated morphology False Congenital deformity Inferred relationship Some 2
    Other anomalies of nose Associated morphology False Congenital deformity Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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