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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (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 anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Atresia of anterior urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Granular cell hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetal mummification (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumpy scalp syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left ventricular-right atrial communication Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lower moiety ureter of duplex kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Short preputial frenulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of musculoskeletal system NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Birth mark, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dual coronary orifice Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital musculoskeletal deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital deformity of scapula NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transposition of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital anomaly of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the urinary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Netherton syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dental arch length loss secondary to congenitally missing teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uncombable hair syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital functional disorders of colon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of cerebral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosome replaced with ring or dicentric Associated morphology False Congenital anomaly Inferred relationship Some
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 13 Associated morphology False Congenital anomaly Inferred relationship Some
    Epispadias (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent hyperplastic primary vitreous Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformation of intestine, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ear anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of hepatic or bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hindfoot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group G and Y Associated morphology False Congenital anomaly Inferred relationship Some
    Lack of ossification of presphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nevus NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified anomaly of muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False Congenital anomaly Inferred relationship Some
    Anomaly of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Cardiac septal defects Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital malposition of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clubfoot (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cerebrovascular system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anteversion of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other muscle, tendon or fascia anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vitreous body Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vomer Associated morphology False Congenital anomaly Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital hypoplasia of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital limb anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal liver lobulation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mouth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of claw toe Direct morphology False Congenital anomaly Inferred relationship Some 1
    Upper moiety ureter of duplex kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eccentric opening of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Color changes during tooth formation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of tendon, fascia or muscle NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intramural coronary artery course Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncus arteriosus, Edwards' type IV Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Flexural Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other specified congenital malformations of digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arterial anomaly of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft vestige NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Evans operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dysgenesis of the cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital macrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Uterus cordiformis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrocolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic pancreas Associated morphology False Congenital anomaly Inferred relationship Some 3
    [X]Other specified congenital malformations of intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1

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