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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Acquired myelocele Associated morphology False kongenit anomali Inferred relationship Some 1
    Intern malleoltorsion Associated morphology False kongenit anomali Inferred relationship Some 1
    Ekstern malleoltorsion Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital forefoot varus Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital rearfoot varus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital talipes calcaneus Associated morphology False kongenit anomali Inferred relationship Some 2
    Pulmonary tuberous sclerosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    McCauley operation (procedure) Direct morphology False kongenit anomali Inferred relationship Some 1
    Conical supernumerary tooth Associated morphology False kongenit anomali Inferred relationship Some 1
    Tuberculate supernumerary tooth Associated morphology False kongenit anomali Inferred relationship Some 1
    læbefordybninger Associated morphology False kongenit anomali Inferred relationship Some 1
    Kommissurale læbefordybninger Associated morphology False kongenit anomali Inferred relationship Some 1
    Midline sinus of the upper lip Associated morphology False kongenit anomali Inferred relationship Some 1
    Gelmans operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Tracheo-esophageal fistula without atresia of esophagus Associated morphology False kongenit anomali Inferred relationship Some 1
    Familial absence of villi Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital disorder of gallbladder and biliary tract Associated morphology False kongenit anomali Inferred relationship Some 1
    Ichthyosis congenita with biliary atresia Associated morphology False kongenit anomali Inferred relationship Some 1
    Retained bile duct stone Associated morphology False kongenit anomali Inferred relationship Some 2
    Bile duct leakage (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Polycystic disease of pancreas Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False kongenit anomali Inferred relationship Some 1
    Cystic fibrosis of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Strangulated umbilical hernia Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital umbilical defect Associated morphology False kongenit anomali Inferred relationship Some 1
    Evans' operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital familial idiopathic priapism Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of scrotum Associated morphology False kongenit anomali Inferred relationship Some 1
    Bifid scrotum Associated morphology False kongenit anomali Inferred relationship Some 1
    Turco operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of bone and joint Associated morphology False kongenit anomali Inferred relationship Some 1
    Goldners operation Direct morphology False kongenit anomali Inferred relationship Some 1
    Knogle- og ledmisdannelse Associated morphology False kongenit anomali Inferred relationship Some 1
    Linear porokeratosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Giant porokeratosis Associated morphology False kongenit anomali Inferred relationship Some 1
    Disseminated superficial porokeratosis Associated morphology False kongenit anomali Inferred relationship Some 1
    A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight. Associated morphology False kongenit anomali Inferred relationship Some
    A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer. Associated morphology False kongenit anomali Inferred relationship Some 1
    Porokeratose (Mantoux' syndrom) Associated morphology False kongenit anomali Inferred relationship Some 1
    Generalised essential telangiectasia Associated morphology False kongenit anomali Inferred relationship Some
    Genodermatosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Familiært multitumorsyndrom Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Basan syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Greither type of ectodermal dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Tricho-onychodental dysplasia Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False kongenit anomali Inferred relationship Some
    Schoepf-Schulz-Passage syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Odonto-onychial dysplasia with alopecia Associated morphology False kongenit anomali Inferred relationship Some
    Fried's tooth and nail syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Dermodental dysplasi Associated morphology False kongenit anomali Inferred relationship Some
    Salamon's syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False kongenit anomali Inferred relationship Some
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False kongenit anomali Inferred relationship Some
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with hair-tooth defects Associated morphology False kongenit anomali Inferred relationship Some
    Odontotrichomelic syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Orofacial-digital syndrome III Associated morphology False kongenit anomali Inferred relationship Some 2
    Orofacial-digital syndrome IV Associated morphology False kongenit anomali Inferred relationship Some 2
    Berlin syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with hair-nail defect Associated morphology False kongenit anomali Inferred relationship Some
    Tricho-oculodermovertebral syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Kirman syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with tooth-nail defects Associated morphology False kongenit anomali Inferred relationship Some
    Dentookulokutant syndrom Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False kongenit anomali Inferred relationship Some
    Sandman-Andra syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with nail defect Associated morphology False kongenit anomali Inferred relationship Some
    Trifalangeale tommelfingre med onykodystrofi Associated morphology False kongenit anomali Inferred relationship Some
    Ectodermal dysplasia with sweating defect Associated morphology False kongenit anomali Inferred relationship Some
    Hypohidrosis with neurolabyrinthitis (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False kongenit anomali Inferred relationship Some
    Multiple benign annular creases of extremities Associated morphology False kongenit anomali Inferred relationship Some 1
    Reticulate pigmented anomaly of flexures Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary clubbing Associated morphology False kongenit anomali Inferred relationship Some 1
    Flynn-Aird syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Cutaneous syndrome with ichthyosis Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. Associated morphology False kongenit anomali Inferred relationship Some 1
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratosis pilaris med iktyose og døvhed Associated morphology False kongenit anomali Inferred relationship Some 3
    Erythrokeratoderma progressiva of Gottron (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratolytic winter erythema Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary palmoplantar keratoderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Palmoplantar keratoderma transgrediens Associated morphology False kongenit anomali Inferred relationship Some 1
    Acroerythrokeratoderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Progressive palmoplantar keratoderma of Greither Associated morphology False kongenit anomali Inferred relationship Some 1
    Epidermolytic palmoplantar keratoderma of Vorner Associated morphology False kongenit anomali 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 kongenit anomali Inferred relationship Some 1
    Circumscribed palmoplantar keratoderma Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratoderma med kongenit pakyonyki Associated morphology False kongenit anomali Inferred relationship Some 1
    Palmoplantar keratoderma with leukoplakia Associated morphology False kongenit anomali Inferred relationship Some 1
    Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Keratoderma med mental retardering og spastisk paraplegi Associated morphology False kongenit anomali Inferred relationship Some 1
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False kongenit anomali Inferred relationship Some 1
    Inherited cutaneous hyperpigmentation Associated morphology False kongenit anomali Inferred relationship Some 1
    Normal variation in cutaneous pigmentation Associated morphology False kongenit anomali Inferred relationship Some

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    REFERS TO concept association reference set

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