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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
    130541000052114 medfödd missbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    medfödd missbildning Is a kongenital anomali false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hanhart's syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital malformation of genital organs (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False medfödd missbildning Inferred relationship Some 2
    Bipartite ossification of sternebra Associated morphology False medfödd missbildning Inferred relationship Some 1
    Hypoplasia of genital organ NEC NOS Associated morphology False medfödd missbildning Inferred relationship Some 1
    Coffin-Lowry syndrome Associated morphology False medfödd missbildning Inferred relationship Some 3
    Atresia of genital organ NEC Associated morphology False medfödd missbildning Inferred relationship Some 1
    Reifensteins syndrom Associated morphology False medfödd missbildning Inferred relationship Some 2
    [X]Other congenital lens malformations Associated morphology False medfödd missbildning Inferred relationship Some 1
    Port-wine stain in Rubinstein-Taybi syndrome (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Other congenital anomaly of clitoris Associated morphology False medfödd missbildning Inferred relationship Some 1
    Mixed vascular malformation (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital malformation of tongue, mouth and pharynx Associated morphology False medfödd missbildning Inferred relationship Some 1
    Angiokeratoma circumscriptum Associated morphology False medfödd missbildning Inferred relationship Some 2
    Oculodento-osseous dysplasia - mild type Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital anomaly of endocrine ovary (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 2
    Synophrys Associated morphology False medfödd missbildning Inferred relationship Some 2
    Klein-Waardenberg's syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Epicapsular star (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital malformation of the eyebrow Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital elongation of innominate artery Associated morphology False medfödd missbildning Inferred relationship Some 2
    känd eller misstänkt hydrocefalus hos fostret som påverkar den obstetriska vården Associated morphology False medfödd missbildning Inferred relationship Some 1
    Posterior chamber vascular anomalies NOS Associated morphology False medfödd missbildning Inferred relationship Some 2
    Cockayne syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    FG syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Double eyebrow Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital malformation of anterior pituitary Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital malformation of the urinary system Associated morphology False medfödd missbildning Inferred relationship Some 1
    Flat palate Associated morphology False medfödd missbildning Inferred relationship Some 1
    Freeman-Sheldon syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False medfödd missbildning Inferred relationship Some 1
    Townes syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital palato-oesophageal incoordination Associated morphology False medfödd missbildning Inferred relationship Some 2
    Nager syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Jarcho-Levin syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Exstrophy of bladder sequence Associated morphology False medfödd missbildning Inferred relationship Some
    Generalised essential telangiectasia Associated morphology False medfödd missbildning Inferred relationship Some 2
    Hypogonadism with prune belly syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    cervikala, vaginala och externa anomalier i kvinnliga könsorgan Associated morphology False medfödd missbildning Inferred relationship Some 2
    perodaktyli Associated morphology False medfödd missbildning Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Vascular loops of inner ear Associated morphology False medfödd missbildning Inferred relationship Some 1
    Port-wine stain in proteus syndrome (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Holt-Oram syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Vascular malformation of the nervous system Associated morphology False medfödd missbildning Inferred relationship Some 1
    Indeterminate sex NOS Associated morphology False medfödd missbildning Inferred relationship Some 1
    Van der Woude syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Other cervical, vaginal and external female genital anomaly NOS Associated morphology False medfödd missbildning Inferred relationship Some 1
    Cavernous hemangioma Associated morphology False medfödd missbildning Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies, unspecified Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital malformation of salivary glands and ducts Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False medfödd missbildning Inferred relationship Some 1
    Other specified mouth and pharynx anomalies Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital vascular malformation due to inherited syndrome (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    foster med avsaknad av öppningar i kraniet Associated morphology False medfödd missbildning Inferred relationship Some 1
    Hypospadias, female Associated morphology False medfödd missbildning Inferred relationship Some 1
    Grafting of palate for cleft palate repair (procedure) Direct morphology False medfödd missbildning Inferred relationship Some 2
    False hermaphrodite Associated morphology False medfödd missbildning Inferred relationship Some 1
    [X]Other congenital malformations of renal artery Associated morphology False medfödd missbildning Inferred relationship Some 1
    Percutaneous transluminal ablation of congenital heart malformation Direct morphology False medfödd missbildning Inferred relationship Some 1
    Mohr syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    22q11-deletionssyndromet Associated morphology False medfödd missbildning Inferred relationship Some 1
    Rieger syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Hemicardia Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital enlargement of nasopharynx Associated morphology False medfödd missbildning Inferred relationship Some 2
    Prune belly syndrome Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital anomaly of endocrine testis (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital malformation of the respiratory system (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False medfödd missbildning Inferred relationship Some 1
    Persistent omphalomesenteric artery (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 2
    Rudimentary uterus in male Associated morphology False medfödd missbildning Inferred relationship Some 2
    Perodactylia of great toe Associated morphology False medfödd missbildning Inferred relationship Some 1
    Incomplete ossification of sternebra Associated morphology False medfödd missbildning Inferred relationship Some 1
    Hypospadias, perineal Associated morphology False medfödd missbildning Inferred relationship Some 1
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False medfödd missbildning Inferred relationship Some
    obestämbart kön och pseudohermafroditism Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital anterior capsular pigmentation Associated morphology False medfödd missbildning Inferred relationship Some 2
    Hypospadias, penoscrotal Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital pharyngeal polyp Associated morphology False medfödd missbildning Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Hypospadias, balanic Associated morphology False medfödd missbildning Inferred relationship Some 2
    Klippel-Trenaunay-Webers syndrom Associated morphology False medfödd missbildning Inferred relationship Some 2
    Developmental anomaly of vitelline duct (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 2
    Synotus Associated morphology False medfödd missbildning Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False medfödd missbildning Inferred relationship Some 1
    Cleft tongue Associated morphology False medfödd missbildning Inferred relationship Some 1
    Mietens syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Prune belly syndrome with pulmonic stenosis, mental retardation and deafness Associated morphology False medfödd missbildning Inferred relationship Some 1
    Central nervous system malformation in fetus affecting obstetrical care Associated morphology False medfödd missbildning Inferred relationship Some 1
    Lack of ossification of sternebra Associated morphology False medfödd missbildning Inferred relationship Some 1
    agnati Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital short hard palate Associated morphology False medfödd missbildning Inferred relationship Some 2
    Pure gonadal dysgenesis Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital vascular malformation (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 1
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False medfödd missbildning Inferred relationship Some 2
    Congenital anomaly of sternebra Associated morphology False medfödd missbildning Inferred relationship Some 1
    Correction of congenital anorectal malformation Direct morphology False medfödd missbildning Inferred relationship Some 1
    Hooded clitoris Associated morphology False medfödd missbildning Inferred relationship Some 1
    Verrucous hemangioma of skin Associated morphology False medfödd missbildning Inferred relationship Some 2
    Coffin-Siris syndrome Associated morphology False medfödd missbildning Inferred relationship Some 1
    Anomaly of artery NEC Associated morphology False medfödd missbildning Inferred relationship Some 1

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