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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
    Keratolytic winter erythema (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False anomalie congénitale Inferred relationship Some 1
    Familial absence of villi Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical myelocystocele Associated morphology False anomalie congénitale Inferred relationship Some 1
    bassin en tromblon Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of uterus - baby delivered with postpartum complication Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atrophy of left lobe of liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pyelon triplex Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of middle ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of dental arch (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Partial trisomy 18 in Edward's syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Persistent Gartner's duct Associated morphology False anomalie congénitale Inferred relationship Some 2
    Persistent thyroglossal duct Associated morphology False anomalie congénitale Inferred relationship Some 2
    Certain congenital musculoskeletal deformities Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of talus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unbalanced translocation and insertion Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of sclera Associated morphology False anomalie congénitale Inferred relationship Some 1
    8p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myotubular myopathy with type I atrophy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital branched rib cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of spine, not associated with scoliosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformation of aortic and mitral valves unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bicornuate uterus complicating antenatal care, baby not yet delivered Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital contracted pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma pigmentosum, group B Associated morphology False anomalie congénitale Inferred relationship Some 1
    5p partial trisomy Associated morphology False anomalie congénitale Inferred relationship Some
    Incomplete ossification of metacarpal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other failure of differentiation, skeletal tissues of arm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital polyp of ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cutaneous lesion resulting from spinal dysraphism (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified skin anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of bony thorax Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital stricture of osseous meatus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myocardial bridge of coronary artery (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hooded penis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of carpal bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital malformation of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified ear anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital tracheo-oesophageal cleft Associated morphology False anomalie congénitale Inferred relationship Some 3
    Pulmonary trunk stenosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bipartite ossification of centrum of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Retinal dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of upper limb(s), including shoulder girdle Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bipartite ossification of centrum of caudal vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete trisomy 20 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Deletion seen only at prometaphase Associated morphology False anomalie congénitale Inferred relationship Some
    Eruption cyst of jaw Associated morphology False anomalie congénitale Inferred relationship Some 2
    Reduction deformity of upper limb NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformations of the respiratory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lower trunk Associated morphology False anomalie congénitale Inferred relationship Some 1
    Diffuse retinal dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    perte en longueur de l'arcade dentaire à la suite de la perte de dents permanentes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Acephalothorax Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified ichthyosis congenita Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of musculoskeletal system by body site Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other overgrowth of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Status marmoratus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fissure of larynx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital diverticulum of ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of ribs Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformation of great arteries, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Triplex ureter Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of brain, part unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumbosacral agenesis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology False anomalie congénitale Inferred relationship Some
    Other carpal synostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sacral dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of upper trunk (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    syndrome de Di George Associated morphology False anomalie congénitale Inferred relationship Some 3
    Camptodactyly-little finger (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital obstructive defect of renal pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital aplasia of round ligament Associated morphology False anomalie congénitale Inferred relationship Some 2
    Incomplete ossification of metatarsal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chromosomal alterations of group E Associated morphology False anomalie congénitale Inferred relationship Some
    Cervical thyroid remnant Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital small optic disc with normal visual function Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malposition of carpal bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Persistent lanugo Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fallot's trilogy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other failure of differentiation of soft tissue of arm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Genitoperineal raphe cyst Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of shoulder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mesatipellic pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thyroglossal duct cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of organ of Corti Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other failure of differentiation skeletal tissues of arm NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lymphatic structure of trunk Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sacral spina bifida with hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital thickening of rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital oesophageal ring Associated morphology False anomalie congénitale Inferred relationship Some 1
    A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of radius Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital ischemic atrophy of central nervous system structure Associated morphology False anomalie congénitale Inferred relationship Some 2
    Goltz syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2

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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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