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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 (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Bipartite ossification of interparietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete absence of alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epitheliogenesis imperfecta lingua bovis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear with impairment of hearing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of parietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atretic right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of palate, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peritoneum (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triple kidney with triple pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis follicularis with alopecia and photophobia (IFAP) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lip Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of zygomatic bone (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of nasal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of appendix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group F Associated morphology False Congenital anomaly Inferred relationship Some
    Agenesis of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of great veins and coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of palatine bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of brain, part unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macerated fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Radiation chimera Associated morphology False Congenital anomaly Inferred relationship Some
    Hereditary acantholytic dermatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Monosomy 21, mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Malaligned outlet septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of maxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hydrocephalus caused by toxoplasmosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis congenita NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of tendon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Solitary arterial trunk Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital familial idiopathic priapism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atresia of pulmonary artery with septal defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital phimosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of perineum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft vestige, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of interparietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vaginal cyst NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformation syndromes with other skeletal changes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Brachypellic pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Colpocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypertelorism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of upper alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent fetal circulation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of zygomatic bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified congenital anomalies of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of prostate Associated morphology False Congenital anomaly Inferred relationship Some 1
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrokeratosis verruciformis of Darier disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Skull congenital deformities Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral cyst NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prader-Willi syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal coronary artery course Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome Y Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of abdominal wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of limb NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microdysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited cutis laxa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of great vessels (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of talus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of mouth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pancreatic trypsin deficiency (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other deletion of part of a chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Xeroderma pigmentosum, group E Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of the aorta excluding coarction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cubitus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital morphological disturbances of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Townes-Brocks syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hyperplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Arachnoid / ependymal cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital thoracostenosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Monosomy and deletion from autosome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of subcutaneous tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of eye, ear and neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous muscle bands of right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left dominant coronary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acephalogaster Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mermaid sirenomelia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thyroglossal duct anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital prognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other overgrowth of limb NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Non-neurologic xeroderma pigmentosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital convoluted ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acyanotic congenital heart disease NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right dominant coronary system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital CNS anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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