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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 false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Myxoid transformation of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Some 3
    Complete bilateral cleft palate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital coronary artery calcification Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormality of ductus arteriosus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isolation of subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 5
    Isolation of subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tracheomalacia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other great vein anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Exencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ectropion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lingual goiter Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of great veins, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral incomplete cleft palate Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Absent right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ductus arteriosus from subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ductus arteriosus from subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Mitral leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Swan's syndrome II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital eyelid deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pulmonary trunk stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Variant dominance of coronary circulation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of endocrine ovary (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pulmonary venous atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cleft of primary palate Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital entropion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dilatation of subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Central serous retinopathy with pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Atrial septal defect through coronary sinus orifice Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal infundibular morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subpulmonary infundibulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subaortic infundibulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral muscular infundibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral deficient infundibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cranial hydromeningocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital cerebral meningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Freemartin Associated morphology False Congenital anomaly Inferred relationship Some 2
    Stenosis of infundibulum of right ventricle (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fistula of coronary sinus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital blocked tear duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Xeroderma, talipes and enamel defect syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Congenital anomaly Inferred relationship Some 2
    A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of fallopian tube and broad ligament Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neurofibromatosis type 2 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tricuspid leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diaphragm anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unilateral maldescent of testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epiblepharon Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lingual thyroid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Potter's facies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of jaw Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital tracheo-oesophageal cleft Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other tongue anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Male epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified congenital anomaly of lacrimal passages Associated morphology False Congenital anomaly Inferred relationship Some 2
    Commissural fusion of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ash leaf spot, tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Systemic to pulmonary collateral artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Double orifice of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Accessory tissue on mitral leaflet (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 2
    A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Associated morphology False Congenital anomaly Inferred relationship Some 2
    A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Associated morphology False Congenital anomaly Inferred relationship Some 3
    Fibrous skin tumor of tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lower alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 2
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypopigmentation of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalous pulmonary venous drainage to coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Residual cyst (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of premaxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital leptomeningeal angiomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supramitral left atrial ring Associated morphology False Congenital anomaly Inferred relationship Some 3
    Overriding tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of ocular adnexa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undescended testes - bilateral Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

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