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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
    Congenital anomaly of jaw Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital vesico-ureteric reflux Associated morphology False anomalie congénitale Inferred relationship Some 1
    Atresia of pupil Associated morphology False anomalie congénitale Inferred relationship Some 2
    Duplication seen only at prometaphase Associated morphology False anomalie congénitale Inferred relationship Some
    Pharyngeal pituitary tissue Associated morphology False anomalie congénitale Inferred relationship Some 2
    Benign congenital hypotonia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of centrum of caudal vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified stomach anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dominant congenital ichthyosiform erythroderma Associated morphology False anomalie congénitale Inferred relationship Some 1
    anomalies fœtales congénitales Associated morphology False anomalie congénitale Inferred relationship Some 1
    Peripheral vascular system anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplex ureter structure Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 16 Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of trunk Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bifid patella Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of renal pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sirenoform monster Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of membranous labyrinth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 19 Associated morphology False anomalie congénitale Inferred relationship Some
    Uterus bicornuatus vetularum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pancreatic colipase deficiency (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    hydromyéloméningocèle Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Modified Johanson operation for claw toe with arthrodesis Direct morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of digestive system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Endocardial fibroelastosis unassociated with other cardiac abnormalities. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of female genital system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pseudocoarctation of aorta Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cardiospasm Associated morphology False anomalie congénitale Inferred relationship Some 1
    2q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Stunted embryo Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of stomach Associated morphology False anomalie congénitale Inferred relationship Some 1
    10q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Acrocephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Darier disease Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital stenosis of inferior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of pituitary gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    XX males Associated morphology False anomalie congénitale Inferred relationship Some
    Female pseudohermaphroditism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Associated morphology False anomalie congénitale Inferred relationship Some
    6q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Oculopharyngeal muscular dystrophy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital skin fragility of animals Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital depression in skull Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cutaneous lesion resulting from spina bifida (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acral Darier's disease (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Keratoderma with deafness Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of macula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Klinefelter's syndrome, XXY (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Pseudocryptorchism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ectopic gastric mucosa - multiple sites (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital labial adhesions Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lethal white syndrome of foals Associated morphology False anomalie congénitale Inferred relationship Some 1
    Axenfeld-Rieger syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cochleate uterus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida aperta of cervical spine (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity of hip NOS Direct morphology False anomalie congénitale Inferred relationship Some 1
    Release of pantalar joints for correction congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Wedge tarsectomy for correction congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 2
    Robinson nail dystrophy-deafness syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rieger eye malformation sequence Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Megalocornea Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified optic disc anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Great vessel transposition NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fusion of heart valve cusps NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomalies of aorta Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other peripheral vascular system anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital urethral valvular stricture Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital torticollis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Transverse deficiency of hand Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gastrointestinal tract congenital anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital gingival granular cell tumor Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital urinary meatus obstruction (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Venous remnant Associated morphology False anomalie congénitale Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital posterior urethral valves Associated morphology False anomalie congénitale Inferred relationship Some 1
    Corneal size or shape anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of ischium Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of eye Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of uterus - baby delivered Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical, vaginal and external female genital anomalies, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 2
    Corneal size and shape anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of frontal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of external genitalia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Disorder of neuronal migration and differentiation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomaly of lip NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Primary correction of congenital deformity of foot NOS Direct morphology False anomalie congénitale Inferred relationship Some 1
    Early secondary malformation of the central nervous system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Excision of limbus for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 2
    Shelf procedure for congenital dislocation of the hip Direct morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformations and deformations of the musculoskeletal system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of wrist Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cleft face Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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