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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lethal Kniest-like syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malposition of the thyroid gland Associated morphology False Congenital malformation Inferred relationship Some
    Congenital protrusion of tongue Associated morphology False Congenital malformation Inferred relationship Some 1
    Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Associated morphology False Congenital malformation Inferred relationship Some
    Retroesophageal carotid artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Congenital arteriovenous malformation of gastrointestinal tract (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Arteriovenous malformation of kidney Associated morphology False Congenital malformation Inferred relationship Some 1
    Retinal arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Some 3
    Congenital arteriovenous malformation of retina Associated morphology False Congenital malformation Inferred relationship Some 2
    Pentalogy of Fallot Associated morphology False Congenital malformation Inferred relationship Some 6
    Hemicardia Associated morphology False Congenital malformation Inferred relationship Some 1
    Absence or hypoplasia of the umbilical artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Arteriovenous malformation of precerebral vessels Associated morphology False Congenital malformation Inferred relationship Some 2
    Fetal alcohol syndrome Associated morphology False Congenital malformation Inferred relationship Some
    fœtus ou nouveau-né affecté par l'usage maternel d'alcool Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation syndromes affecting facial appearance Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation syndromes associated with short stature Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation syndromes involving limbs Associated morphology False Congenital malformation Inferred relationship Some 2
    Aglossia-adactyly syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndromes with metabolic disturbances Associated morphology False Congenital malformation Inferred relationship Some
    Biemond's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Ullrich-Feichtiger syndrome, chimera Associated morphology False Congenital malformation Inferred relationship Some
    Acephalothorax Associated morphology False Congenital malformation Inferred relationship Some
    Congenital arteriovenous fistula of brain Associated morphology False Congenital malformation Inferred relationship Some 1
    Mermaid sirenomelia Associated morphology False Congenital malformation Inferred relationship Some
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Congenital malformation Inferred relationship Some 6
    Ventricular septal defect in Fallot's tetralogy Associated morphology False Congenital malformation Inferred relationship Some 7
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Kniest-Stickler dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation syndrome due to known exogenous cause Associated morphology False Congenital malformation Inferred relationship Some
    Arteriovenous malformation of skin Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital peripheral aneurysm Associated morphology False Congenital malformation Inferred relationship Some 2
    fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation of the respiratory system Associated morphology False Congenital malformation Inferred relationship Some 1
    Peripheral arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Some 1
    Tetralogy of Fallot NOS Associated morphology False Congenital malformation Inferred relationship Some 6
    Anomaly of artery NEC Associated morphology False Congenital malformation Inferred relationship Some 1
    Atresia of artery NEC Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital brain aneurysm NEC Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital aneurysm NEC Associated morphology False Congenital malformation Inferred relationship Some 2
    Arthrogryposis, unspecified Associated morphology False Congenital malformation Inferred relationship Some
    Other arthrogryposis syndromes Associated morphology False Congenital malformation Inferred relationship Some
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation syndrome affecting facial appearance NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndrome associated with short stature NOS Associated morphology False Congenital malformation Inferred relationship Some
    Congenital malformation syndrome involving limbs NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndrome with other skeletal changes NOS Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital malformation syndrome with metabolic disturbance NOS Associated morphology False Congenital malformation Inferred relationship Some
    [X]Other congenital malformations of renal artery Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other congenital malformations Associated morphology False Congenital malformation Inferred relationship Some
    [X]Other congenital malformation syndromes due to known exogenous causes Associated morphology False Congenital malformation Inferred relationship Some
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Congenital malformation Inferred relationship Some 1
    [X]Other specified congenital malformation syndromes, not elsewhere classified Associated morphology False Congenital malformation Inferred relationship Some
    [X]Other specified congenital malformations Associated morphology False Congenital malformation Inferred relationship Some
    Tetralogy of Fallot, unspecified Associated morphology False Congenital malformation Inferred relationship Some 6
    Congenital arthrogryposis caused by teratogen (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Precocious osteodysplasty (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Yunis-Varon dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Neonatal osteosclerotic dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Blomstrand dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Associated morphology False Congenital malformation Inferred relationship Some
    Bovine achondroplasia Associated morphology False Congenital malformation Inferred relationship Some
    Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False Congenital malformation Inferred relationship Some 6
    Congenital malformation syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Pena-Shokeir syndrome type I (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Smith-Magenis syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Fordyce spots of buccal mucosa (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital lower lip pits (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Cardio-acral-facial syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Cardio-facio-cutaneous syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Bitemporal scars with abnormal eyelashes Associated morphology False Congenital malformation Inferred relationship Some
    Cleft palate lateral synechia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Congenital absence of salivary gland Associated morphology False Congenital malformation Inferred relationship Some 2
    Accessory salivary gland Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital enlargement of nasopharynx Associated morphology False Congenital malformation Inferred relationship Some 2
    Accessory salivary gland or duct Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital salivary gland fistula Associated morphology False Congenital malformation Inferred relationship Some 2
    Accessory salivary duct Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False Congenital malformation Inferred relationship Some 2
    Rathke's pouch cyst Associated morphology False Congenital malformation Inferred relationship Some 3
    Displacement of Wharton's duct Associated morphology False Congenital malformation Inferred relationship Some 3
    Congenital fistula of salivary gland Associated morphology False Congenital malformation Inferred relationship Some 3
    Cephalodiprosopus Associated morphology False Congenital malformation Inferred relationship Some
    Isologous chimera Associated morphology False Congenital malformation Inferred relationship Some
    Derencephalus Associated morphology False Congenital malformation Inferred relationship Some 1
    Heterodymus Associated morphology False Congenital malformation Inferred relationship Some
    Thoracodidymus Associated morphology False Congenital malformation Inferred relationship Some
    Cebocephalus Associated morphology False Congenital malformation Inferred relationship Some 1
    Atretocephalus Associated morphology False Congenital malformation Inferred relationship Some 1
    Omocephalus Associated morphology False Congenital malformation Inferred relationship Some
    Polysomatous monster Associated morphology False Congenital malformation Inferred relationship Some
    Deradelphus Associated morphology False Congenital malformation Inferred relationship Some

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    Reference Sets

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