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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
    Acquired myelocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Internal malleolar torsion Associated morphology False Congenital anomaly Inferred relationship Some 1
    External malleolar torsion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital forefoot varus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital rearfoot varus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital talipes calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pulmonary tuberous sclerosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    McCauley operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Conical supernumerary tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tuberculate supernumerary tooth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lip pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Commissural lip pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital midline sinus of philtrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gelman operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Tracheo-esophageal fistula without atresia of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial absence of villi Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital disorder of gallbladder and biliary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retained bile duct stone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bile duct leakage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Polycystic disease of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cystic fibrosis of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Strangulated umbilical hernia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital umbilical defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Evans operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital familial idiopathic priapism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bifid scrotum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turco operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False Congenital anomaly Inferred relationship Some 1
    Goldner operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Bone and joint malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Linear porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Giant porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disseminated superficial porokeratosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial. Associated morphology False Congenital anomaly Inferred relationship Some
    A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Porokeratosis of Mantoux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Generalised essential telangiectasia Associated morphology False Congenital anomaly Inferred relationship Some
    Genodermatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple tumor syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Roselli-Gulienetti ectodermal dysplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Basan syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Greither type of ectodermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Tricho-onychodental dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Schoepf-Schulz-Passage syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Odonto-onychial dysplasia with alopecia Associated morphology False Congenital anomaly Inferred relationship Some
    Fried's tooth and nail syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Dermodental dysplasia Associated morphology False Congenital anomaly Inferred relationship Some
    Salamon's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Congenital anomaly Inferred relationship Some
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-tooth defects Associated morphology False Congenital anomaly Inferred relationship Some
    Odontotrichomelic syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Orofacial-digital syndrome III Associated morphology False Congenital anomaly Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False Congenital anomaly Inferred relationship Some 2
    Berlin syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with hair-nail defect Associated morphology False Congenital anomaly Inferred relationship Some
    Tricho-oculodermovertebral syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Kirman syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Congenital anomaly Inferred relationship Some
    Dento-oculocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Congenital anomaly Inferred relationship Some
    Sandman-Andra syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with nail defect Associated morphology False Congenital anomaly Inferred relationship Some
    Triphalangeal thumbs with onychodystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Ectodermal dysplasia with sweating defect (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Hypohidrosis with neurolabyrinthitis Associated morphology False Congenital anomaly Inferred relationship Some
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Congenital anomaly Inferred relationship Some
    Multiple benign annular creases of extremities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reticulate pigmented anomaly of flexures Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary clubbing (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Flynn-Aird syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Cutaneous syndrome with ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratosis pilaris with ichthyosis and deafness Associated morphology False Congenital anomaly Inferred relationship Some 3
    Erythrokeratoderma progressiva of Gottron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratolytic winter erythema (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma transgrediens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acroerythrokeratoderma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Progressive palmoplantar keratoderma of Greither Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermolytic palmoplantar keratoderma of Vorner Associated morphology False Congenital anomaly Inferred relationship Some 1
    A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with pachyonychia congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma with leukoplakia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratoderma with mental retardation and spastic paraplegia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited cutaneous hyperpigmentation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Normal variation in cutaneous pigmentation Associated morphology False Congenital anomaly Inferred relationship Some

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