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107656002: Congenital anomaly (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
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (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 anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Neonatal cutis laxa with marfanoid phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, recessive, type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, recessive, type II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital morphological disturbances of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uncombable hair syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital wooly hair (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ringed hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Marie Unna syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital enlarged nails Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of skin Associated morphology False Congenital anomaly Inferred relationship Some
    Familial focal facial dermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital retraction of nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis type 3 Associated morphology False Congenital anomaly Inferred relationship Some 3
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Shagreen patch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Basal cell nevus with comedones Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital livedo reticularis Associated morphology False Congenital anomaly Inferred relationship Some
    Blue rubber bleb naevus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Verrucous hemangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital giant pigmented nevus of skin Associated morphology False Congenital anomaly Inferred relationship Some
    Oculocutaneous melanocytic naevus Associated morphology False Congenital anomaly Inferred relationship Some
    Vitellointestinal band Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epoophoron (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent Gartner's duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mullerian remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital coronary artery fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Centralisation carpus correction for radial club hand Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital absence of radius Direct morphology False Congenital anomaly Inferred relationship Some 2
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Release of pantalar joints for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Osteotomy of body of os calcis for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Wedge tarsectomy for correction congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of curly fifth toe Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital complete absence of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital non bullous ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ptosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormality of liver and/or biliary tract (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Displaced uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fusion of labia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fusion of labia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Unilateral undescended testis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 1
    Indeterminate sex and pseudohermaphroditism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of skull and face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital torticollis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb with lymphedema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localised congenital skull defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital instability of hip joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital varus deformities of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intrauterine amputation of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aberrant intrinsic muscles of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meningomyelocele/myelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of ovaries and fallopian tubes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital clubbing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Curry-Hall syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Trichodental syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Laryngo-onychocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Schprintzen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Combined malformation of central nervous system and skeletal muscle (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Muscle eye brain disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency lower limb - knee level Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormality of nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tubule of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duct of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vesicular appendix of ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paroophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tubule of paroophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vestigial gastrointestinal remnant Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acquired renal arteriovenous fistula Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital inversion of nipple Associated morphology False Congenital anomaly Inferred relationship Some 1
    Weber-Cockayne syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duodenal web Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reducible umbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital deformity of foot (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital broncho-esophageal fistula without atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence, atresia and stenosis of large intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Embryonic cyst of fallopian tube Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital extension contracture of the knee Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse deficiency of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transverse arrest metacarpal second to fifth rays (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of multiple toes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary splenic hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paratubal cyst arising in mesonephric duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of thumb duplication Direct morphology False Congenital anomaly Inferred relationship Some 2
    Common bile duct calculus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Division of constricting band on limb Direct morphology False Congenital anomaly Inferred relationship Some 3
    Brachydactyly of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Synbrachydactyly of hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brachyphalangia of toe Associated morphology False Congenital anomaly Inferred relationship Some 3
    Brachyphalangia of toe Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital penoscrotal transposition Associated morphology False Congenital anomaly Inferred relationship Some 1
    Netherton syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Strangulated paraumbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital dysgenetic ptosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital rectocloacal fistula Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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