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112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2848661000005114 Kongenit malformation 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 malformation Is a kongenit anomali false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    arterieanomali, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Misshapen sternum Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenitte misdannelsessyndromer, der afficerer ansigtsudseendet Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital hypoplasia of genital tubercle Associated morphology False Kongenit malformation Inferred relationship Some 2
    Pure gonadal dysgenesis 46,XY Associated morphology False Kongenit malformation Inferred relationship Some 1
    manglende kønsorgan, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    hypoplasi af kønsorgan, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital vascular malformation of lip (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Kongenit malformation Inferred relationship Some 2
    Diplopodia Associated morphology False Kongenit malformation Inferred relationship Some 1
    Pseudohermaphroditism Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenit vaskulær malformation af huden Associated morphology False Kongenit malformation Inferred relationship Some 1
    Fordyce spots of buccal mucosa (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Pseudohermafrodit, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    anden kongenit anomali af testikel eller scrotum Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of uterus and cervix Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of clitoris (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Sacroperineal pull-through Direct morphology False Kongenit malformation Inferred relationship Some 1
    Pancreatic duct anomaly Associated morphology False Kongenit malformation Inferred relationship Some 2
    kongenit aplasi af kønsorgan, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Derencephalus Associated morphology False Kongenit malformation Inferred relationship Some 1
    anomali af cervix, vagina og ydre kvindelige kønsorganer, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Fetal hydantoin syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Alobar holoprosencephaly Associated morphology False Kongenit malformation Inferred relationship Some 1
    Perodactylia of multiple toes Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of posterior pituitary Associated morphology False Kongenit malformation Inferred relationship Some 1
    Male pseudohermaphroditism Associated morphology False Kongenit malformation Inferred relationship Some 2
    kønsorgananomali, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Larsen syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Uterus parvicollis Associated morphology False Kongenit malformation Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Kongenit malformation Inferred relationship Some 2
    Macropalpebral fissure Associated morphology False Kongenit malformation Inferred relationship Some 1
    cyste af embryorest, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    Ambiguous genitalia Associated morphology False Kongenit malformation Inferred relationship Some 2
    Ruvalcaba-Myhres syndrom Associated morphology False Kongenit malformation Inferred relationship Some 1
    [EDTA] Syndrome of agenesis of abdominal muscles (Prune belly syndrome) associated with renal failure Associated morphology False Kongenit malformation Inferred relationship Some 1
    Displacement of Wharton's duct (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 3
    anden anomali af cervix, vagina og ydre kvindelige kønsorganer Associated morphology False Kongenit malformation Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Persistent cerebral embryonic artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Vascular malformation of inner ear Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of sphenoid wing (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Unilateral kongenit dysplasi af lunge med vaskulære anomalier Associated morphology False Kongenit malformation Inferred relationship Some 2
    lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Associated morphology False Kongenit malformation Inferred relationship Some 2
    Cutaneous vascular malformation (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Annular pancreas Associated morphology False Kongenit malformation Inferred relationship Some 1
    Persistence of primitive artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    Arterial malformation Associated morphology False Kongenit malformation Inferred relationship Some 1
    Exstrophy of cloaca sequence Associated morphology False Kongenit malformation Inferred relationship Some 3
    Hypospadias (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Anomalies of pancreas Associated morphology False Kongenit malformation Inferred relationship Some 1
    Melnick-Fraser syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of the urinary system Associated morphology False Kongenit malformation Inferred relationship Some 1
    Pancreasanomalier, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Persistent omphalomesenteric artery Associated morphology False Kongenit malformation Inferred relationship Some 2
    Leydig cell agenesis Associated morphology False Kongenit malformation Inferred relationship Some 1
    Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Sturge-Weber syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Andre specificerede pancreasanomalier Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of pancreas Associated morphology False Kongenit malformation Inferred relationship Some 1
    Cobb's syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Vein of Galen malformation (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Single stage epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    Septo-optic dysplasia sequence (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Revision of male epispadias repair Direct morphology False Kongenit malformation 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 Kongenit malformation Inferred relationship Some
    Male epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. Associated morphology False Kongenit malformation Inferred relationship Some
    iniencefali, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 2
    Trichorhinophalangeal syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    Acrocephalosyndactyly Associated morphology False Kongenit malformation Inferred relationship Some
    Opitz-Frias syndrome Associated morphology False Kongenit malformation Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False Kongenit malformation Inferred relationship Some 2
    Iniencephaly - open Associated morphology False Kongenit malformation Inferred relationship Some 2
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Iniencephaly (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Delta phalanx of finger Associated morphology False Kongenit malformation Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False Kongenit malformation Inferred relationship Some 1
    Acrocephalopolysyndactyly Associated morphology False Kongenit malformation Inferred relationship Some
    Holoprosencephaly sequence Associated morphology False Kongenit malformation Inferred relationship Some 1
    Second stage of two-stage epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    fælles atrium Is a False Kongenit malformation Inferred relationship Some
    fælles hjerteventrikel Is a False Kongenit malformation Inferred relationship Some
    Single stage epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    First stage of two-stage epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    Second stage of two-stage epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    Male epispadias repair Direct morphology False Kongenit malformation Inferred relationship Some 1
    Delta phalanx of finger Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital bronchomalacia Associated morphology False Kongenit malformation Inferred relationship Some 2
    Port-wine stain of skin (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Isolation of left common carotid artery (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of vitreous humour Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of ear Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of the meninges Associated morphology False Kongenit malformation Inferred relationship Some 1
    Secondary congenital bronchomalacia (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital malformation of trachea and bronchus Associated morphology False Kongenit malformation Inferred relationship Some 1

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