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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
    Lethal Kniest-like syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital malposition of the thyroid gland Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital protrusion of tongue Associated morphology False Kongenit malformation Inferred relationship Some 1
    Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Associated morphology False Kongenit malformation Inferred relationship Some
    Retroesophageal carotid artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital arteriovenous malformation of gastrointestinal tract (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Arteriovenous malformation of kidney Associated morphology False Kongenit malformation Inferred relationship Some 1
    Retinal arteriovenous malformation Associated morphology False Kongenit malformation Inferred relationship Some 3
    Kongenit arteriovenøs malformation i retina Associated morphology False Kongenit malformation Inferred relationship Some 2
    Pentalogy of Fallot Associated morphology False Kongenit malformation Inferred relationship Some 6
    Hemicardia Associated morphology False Kongenit malformation Inferred relationship Some 1
    manglende eller hypoplasi af umbilikalarterien Associated morphology False Kongenit malformation Inferred relationship Some 1
    Arteriovenous malformation of precerebral vessels Associated morphology False Kongenit malformation Inferred relationship Some 2
    Fetal alcohol syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    foster og nyfødt påvirket af moders brug af alkohol Associated morphology False Kongenit malformation Inferred relationship Some
    Kongenitte misdannelsessyndromer, der afficerer ansigtsudseendet Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital malformation syndromes associated with short stature Associated morphology False Kongenit malformation Inferred relationship Some
    Kongenit misdannelsessyndrom med involvering af ekstremiteter Associated morphology False Kongenit malformation Inferred relationship Some 2
    Aglossia-adactyly syndrome Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenitte misdannelsessyndromer med metaboliske forstyrrelser Associated morphology False Kongenit malformation Inferred relationship Some
    Biemond's syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Pataus syndrom, mosaik Associated morphology False Kongenit malformation Inferred relationship Some
    Acephalothorax Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital arteriovenous fistula of brain Associated morphology False Kongenit malformation Inferred relationship Some 1
    Sirenomeli Associated morphology False Kongenit malformation Inferred relationship Some
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Kongenit malformation Inferred relationship Some 6
    Ventricular septal defect in Fallot's tetralogy Associated morphology False Kongenit malformation Inferred relationship Some 7
    Atelosteogenese/diastrofisk dysplasi Associated morphology False Kongenit malformation Inferred relationship Some
    Kniest-Stickler dysplasia Associated morphology False Kongenit malformation Inferred relationship Some
    kongenit misdannelsessyndrom som følge af kendt ydre årsag Associated morphology False Kongenit malformation Inferred relationship Some
    Arteriovenous malformation of skin Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital peripheral aneurysm Associated morphology False Kongenit malformation Inferred relationship Some 2
    Foster eller nyfødt påvirket af placenta- eller brystoverførsel af alkohol Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital malformation of the respiratory system Associated morphology False Kongenit malformation Inferred relationship Some 1
    Peripheral arteriovenous malformation Associated morphology False Kongenit malformation Inferred relationship Some 1
    Steno-Fallots tetralogi, ikke nærmere specificert Associated morphology False Kongenit malformation Inferred relationship Some 6
    arterieanomali, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    arterieatresi, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenit cerebralt aneurisme, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenit aneurisme, ikke klassificeret andetsteds Associated morphology False Kongenit malformation Inferred relationship Some 2
    Artrogrypose, uspecificeret Associated morphology False Kongenit malformation Inferred relationship Some
    Andre artrogryposesyndromer Associated morphology False Kongenit malformation Inferred relationship Some
    Multipel epifyseal dysplasi, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some
    Kongenit misdannelsessyndrom, der afficerer ansigtsudseendet, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    kongenit misdannelsessyndrom associeret med kort statur, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some
    Kongenit misdannelsessyndrom, der involverer ekstremiteter, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenitte malformationssyndromer med andre skeletforandringer Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenit misdannelsessyndrom med andre skeletforandringer, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some 1
    Kongenit misdannelsessyndrom med metaboliske forstyrrelser, ikke nærmere specificeret Associated morphology False Kongenit malformation Inferred relationship Some
    [X]Other congenital malformations of renal artery Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other congenital malformations Associated morphology False Kongenit malformation Inferred relationship Some
    [X]Other congenital malformation syndromes due to known exogenous causes Associated morphology False Kongenit malformation Inferred relationship Some
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Kongenit malformation Inferred relationship Some 1
    [X]Other specified congenital malformation syndromes, not elsewhere classified Associated morphology False Kongenit malformation Inferred relationship Some
    [X]Other specified congenital malformations Associated morphology False Kongenit malformation Inferred relationship Some
    Steno-Fallots tetralogi, uspecificeret Associated morphology False Kongenit malformation Inferred relationship Some 6
    Congenital arthrogryposis caused by teratogen (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Precocious osteodysplasty (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Yunis-Varon dysplasia (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Neonatal osteosclerotic dysplasia (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Blomstrand dysplasia (disorder) Associated morphology False Kongenit 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 Kongenit malformation Inferred relationship Some
    Bovine achondroplasia Associated morphology False Kongenit malformation Inferred relationship Some
    Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 6
    Congenital malformation syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Pena-Shokeir syndrome type I (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Smith-Magenis syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Fordyce spots of buccal mucosa (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Congenital lower lip pits (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 1
    Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Cardio-acral-facial syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Cardio-facio-cutaneous syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Bitemporale ar med abnorme øjenvipper Associated morphology False Kongenit malformation Inferred relationship Some
    Cleft palate lateral synechia syndrome Associated morphology False Kongenit malformation Inferred relationship Some
    Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Associated morphology False Kongenit malformation Inferred relationship Some
    Congenital absence of salivary gland Associated morphology False Kongenit malformation Inferred relationship Some 2
    Accessory salivary gland Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital enlargement of nasopharynx Associated morphology False Kongenit malformation Inferred relationship Some 2
    Accessory salivary gland or duct Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital salivary gland fistula Associated morphology False Kongenit malformation Inferred relationship Some 2
    Accessory salivary duct Associated morphology False Kongenit malformation Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False Kongenit malformation Inferred relationship Some 2
    Rathke's pouch cyst Associated morphology False Kongenit malformation Inferred relationship Some 3
    Displacement of Wharton's duct (disorder) Associated morphology False Kongenit malformation Inferred relationship Some 3
    Congenital fistula of salivary gland Associated morphology False Kongenit malformation Inferred relationship Some 3
    Cephalodiprosopus Associated morphology False Kongenit malformation Inferred relationship Some
    Isologous chimera Associated morphology False Kongenit malformation Inferred relationship Some
    Derencephalus Associated morphology False Kongenit malformation Inferred relationship Some 1
    Heterodymus Associated morphology False Kongenit malformation Inferred relationship Some
    Thoracodidymus Associated morphology False Kongenit malformation Inferred relationship Some
    Cebocephalus Associated morphology False Kongenit malformation Inferred relationship Some 1
    manglende åbninger i kraniet Associated morphology False Kongenit malformation Inferred relationship Some 1
    Omocephalus Associated morphology False Kongenit malformation Inferred relationship Some
    Polysomatøst misfoster Associated morphology False Kongenit malformation Inferred relationship Some
    Deradelphus (disorder) Associated morphology False Kongenit malformation Inferred relationship Some

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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