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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

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

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    This concept is not in any reference sets

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