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112635002: Congenital malformation (morphologic abnormality)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    642068012 Congenital malformation (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 malformation Is a Congenital anomaly false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital malformation of genital organs Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Bipartite ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Hypoplasia of genital organ NEC NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Coffin-Lowry syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Atresia of genital organ NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Reifenstein syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    [X]Other congenital lens malformations Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Port-wine stain in Rubinstein-Taybi syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Other congenital anomaly of clitoris Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Mixed vascular malformation Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital malformation of tongue, mouth and pharynx Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Angiokeratoma circumscriptum Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital anomaly of endocrine ovary Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Synophrys Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Waardenburg syndrome type 3 Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Epicapsular star Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital malformation of the eyebrow Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital elongation of innominate artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Known OR suspected fetal hydrocephalus affecting obstetrical care Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Posterior chamber vascular anomalies NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Double eyebrow Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital malformation of anterior pituitary Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital malformation of the urinary system Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Flat palate Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Freeman-Sheldon syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital palatoesophageal incoordination Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Jarcho-Levin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Exstrophy of bladder sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Generalized essential telangiectasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Hypogonadism with prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Cervical, vaginal and external female genital anomalies Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Perodactylia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Vascular loops of inner ear Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Port-wine stain in proteus syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Holt-Oram syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Vascular malformation of the nervous system Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Indeterminate sex NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Van der Woude syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Other cervical, vaginal and external female genital anomaly NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Cavernous hemangioma Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Cervical, vaginal and external female genital anomalies, unspecified Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital malformation of salivary glands and ducts Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital fissure of epiglottis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Other specified mouth and pharynx anomalies Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital vascular malformation due to inherited syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Atretocephalus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Female hypospadias Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Grafting of palate for cleft palate repair Direct morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    False hermaphrodite Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of renal artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Percutaneous transluminal ablation of congenital malformation of heart Direct morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Hemicardia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital enlargement of nasopharynx Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Prune belly syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital anomaly of endocrine testis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital malformation of the respiratory system Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Persistent omphalomesenteric artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Rudimentary uterus in male Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Perodactylia of great toe Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Incomplete ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Perineal hypospadias Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Indeterminate sex and pseudohermaphroditism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital anterior capsular pigmentation Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Penoscrotal hypospadias Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital pharyngeal polyp Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Hypospadias, balanic Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Klippel-Trenaunay-Weber syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Developmental anomaly of vitelline duct Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Synotus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Cleft tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Central nervous system malformation in fetus affecting obstetrical care Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Lack of ossification of sternebra Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Agnathus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital short hard palate Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Pure gonadal dysgenesis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital vascular malformation Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital anomaly of endocrine gonad Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Congenital anomaly of sternebra Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Correction of congenital anorectal malformation Direct morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Hooded clitoris Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Verrucous hemangioma of skin Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Coffin-Siris syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Anomaly of artery NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1

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