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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
    183283010 Congenital malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lethal Kniest-like syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malposition of the thyroid gland Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital protrusion of tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Retro-oesophageal carotid artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Rolland-Debuqois syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital arteriovenous malformation of gastrointestinal tract (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Arteriovenous malformation of kidney (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Retinal arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital arteriovenous malformation of retina Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Pentalogy of Fallot Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Hemicardia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Absence or hypoplasia of the umbilical artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Arteriovenous malformation of precerebral vessels Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Fetal alcohol syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    fœtus ou nouveau-né affecté par l'usage maternel d'alcool Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation syndromes affecting facial appearance Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital malformation syndromes associated with short stature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation syndromes involving limbs Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Aglossia-adactyly syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital malformation syndromes with metabolic disturbances Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Biemond's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Ullrich-Feichtiger syndrome, chimera Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Acephalothorax Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital arteriovenous fistula of brain Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Mermaid sirenomelia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Ventricular septal defect in Fallot's tetralogy (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 7
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Kniest-Stickler dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation syndrome due to known exogenous cause Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Arteriovenous malformation of skin Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital peripheral aneurysm Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation of the respiratory system Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Peripheral arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Tetralogy of Fallot NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Anomaly of artery NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Atresia of artery NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital brain aneurysm NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital aneurysm NEC Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Arthrogryposis, unspecified Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Other arthrogryposis syndromes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation syndrome affecting facial appearance NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital malformation syndrome associated with short stature NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malformation syndrome involving limbs NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital malformation syndrome with other skeletal changes NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital malformation syndrome with metabolic disturbance NOS Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    [X]Other congenital malformations of renal artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    [X]Other congenital malformations Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    [X]Other congenital malformation syndromes due to known exogenous causes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    [X]Other specified congenital malformation syndromes, not elsewhere classified Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    [X]Other specified congenital malformations Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Tetralogy of Fallot, unspecified Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Congenital arthrogryposis caused by teratogen (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Thanatophoric dysplasia, type 2 Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Trichorhinophalangeal dysplasia type III Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Precocious osteodysplasty (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Yunis-Varon dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Neonatal osteosclerotic dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Blomstrand dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Raine dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Bovine achondroplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Tetralogy of Fallot with absent pulmonary valve Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 6
    Congenital malformation syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Pena-Shokeir syndrome type I (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Smith-Magenis syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Fordyce spots of buccal mucosa Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital lower lip pits (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cardio-acral-facial syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cardio-facio-cutaneous syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Bitemporal scars with abnormal eyelashes Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cleft palate lateral synechia syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital absence of salivary gland Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Accessory salivary gland Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital enlargement of nasopharynx Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Accessory salivary gland or duct Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital salivary gland fistula Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Accessory salivary duct Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital anomaly of uvula Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 2
    Rathke's pouch cyst Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Displacement of Wharton's duct Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital fistula of salivary gland Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 3
    Cephalodiprosopus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Isologous chimera Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Derencephalus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Heterodymus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Thoracodidymus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Cebocephalus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Atretocephalus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept) 1
    Omocephalus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Polysomatous monster Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)
    Deradelphus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier (core metadata concept)

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    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    POSSIBLY EQUIVALENT TO association reference set

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