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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
    Epidermolysis bullosa acquisita, oral mucosal involvement (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant ichthyosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    X-linked recessive ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive ichthyosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Punctate palmoplantar keratoderma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic defect of hair shaft (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited epidermolysis bullosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental malformation of branchial arch (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fordyce spots of buccal mucosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital lower lip pits (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent vitelline duct (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vitelline duct polyp (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertrichosis with congenital macrogingivae (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline cervical cleft (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutaneous lesion resulting from spinal dysraphism (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutaneous lesion resulting from spina bifida (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rudimentary digit (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Drug-induced epidermolysis bullosa acquisita (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Lamellar ichthyosis (limited type) (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis follicularis with alopecia and photophobia (IFAP) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Flexural Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypertrophic Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Linear/nevoid/zosteriform Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acral Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nail dystrophy due to Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nail dystrophy due to benign familial pemphigus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with deafness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal recessive familial woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic abnormality of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypertrichosis lanuginosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dystrophic epidermolysis bullosa inverse type (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolysis bullosa pruriginosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localized congenital cutis laxa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Plexiform neurofibroma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Elephantiasis neurofibromatosa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    familiaire multipele café-au-laitvlekken zonder neurofibromatose Associated morphology False Congenital anomaly Inferred relationship Some 2
    Periungual fibroma in tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of digit (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Cleft palate, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral congenital macrostomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Congenital anomaly Inferred relationship Some 3
    Unilateral cleft hard palate Associated morphology False Congenital anomaly Inferred relationship Some 2
    Opitz-Frias 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
    Patent ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of left pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of third eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tricuspid leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    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
    Congenital anomaly of pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epiblepharon (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lingual thyroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lingual thyroid 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
    Other tongue anomalies Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital atresia of nares Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus arteriosus with left-to-right shunt Associated morphology False Congenital anomaly Inferred relationship Some 3
    Vascular ring, aorta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tongue absent Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hooded penis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Constriction ring syndrome of lower limb (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleft hard palate NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mitral papillary muscle abnormality Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patent ductus arteriosus - delayed closure (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Systemic to pulmonary collateral artery (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 4
    Double orifice of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on mitral leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Facial asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypopigmentation of third eyelid 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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