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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Supernumerary heart valve cusps NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of pituitary gland NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital urethral valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital portal-systemic shunt in which at least some portal blood perfuses the liver. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of shoulder or upper arm Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital myopathy with abnormal subcellular organelles Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double inlet ventricle (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of the musculoskeletal system Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital deformities of chest Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracoschisis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dysgenesis of lacrimal punctum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital stenosis of larynx, trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other lung anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Endocrine gland anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other reduction deformity of brain NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pulmonary tuberous sclerosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Annular pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Specified anomalies of sclera Associated morphology False anomalie congénitale Inferred relationship Some 1
    16q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Other lung anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of metacarpal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    anomalie congénitale de l'appareil respiratoire Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified lung agenesis, hypoplasia or dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double inlet left ventricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left sided atrium connecting to both ventricles Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified endocrine gland anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of scapula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital enlarged kidney Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of maxilla Associated morphology False anomalie congénitale Inferred relationship Some 1
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomaly of penis NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double inlet right ventricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Juvenile pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lower respiratory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sjögren-Larsson syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False anomalie congénitale Inferred relationship Some
    Faun tail syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False anomalie congénitale Inferred relationship Some
    Criss-cross heart Associated morphology False anomalie congénitale Inferred relationship Some 1
    Papyraceous fetus - not delivered Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital generalized flexion contractures of lower limb joints Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete ossification of exoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lung agenesis, hypoplasia or dysplasia NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Redundant prepuce Associated morphology False anomalie congénitale Inferred relationship Some 1
    Triphalangeal great toe Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital heart anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of metatarsal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Digestive system anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Female Kallman's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bilateral deficient infundibula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Agenesis of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormality of external ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Failure of differentiation of bones of lower limb (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of corpus callosum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 4 Associated morphology False anomalie congénitale Inferred relationship Some
    Nail dystrophy due to Darier's disease (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum, group A Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reduction anomaly of hypothalamus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of alisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of caudal vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified anomalies of choroid Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 11 Associated morphology False anomalie congénitale Inferred relationship Some
    Interrupted aortic arch distal to left subclavian artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Triploidy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Nervous system anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of frontal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital renal failure Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component Associated morphology False anomalie congénitale Inferred relationship Some 1
    Uterus subseptus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of great veins, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of liver and/or gallbladder (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of metacarpal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 10 Associated morphology False anomalie congénitale Inferred relationship Some
    Cyst of female mesonephric duct Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Associated morphology False anomalie congénitale Inferred relationship Some
    Agyria Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified anomaly of ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other dwarfing syndromes NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Associated morphology False anomalie congénitale Inferred relationship Some
    Other congenital upper alimentary tract anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital flexion contracture of knee Associated morphology False anomalie congénitale Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Neuroenteric cyst and associated malformation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False anomalie congénitale Inferred relationship Some
    Branchial cleft cyst Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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