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702626005: Congenital absence (disorder)

    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
    3005274014 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3005295016 Congenital absence (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3005331014 Congenital agenesis en Synonym (core metadata concept) 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 absence Is a Congenital malformation false Inferred relationship Some
    Congenital absence Occurrence Congenital false Inferred relationship Some 1
    Congenital absence Associated morphology Congenital absence false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital absence of epididymis Is a False Congenital absence Inferred relationship Some
    Congenital absence of vulva Is a False Congenital absence Inferred relationship Some
    Congenital absence of urinary bladder Is a False Congenital absence Inferred relationship Some
    Congenital absence of lacrimal drainage structure (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of alimentary tract Is a False Congenital absence Inferred relationship Some
    Congenital absence of heart structure (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of cranial vault (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of muscle AND/OR tendon Is a False Congenital absence Inferred relationship Some
    Congenital alopecia Is a False Congenital absence Inferred relationship Some
    Congenital absence of gonads Is a False Congenital absence Inferred relationship Some
    Congenital absence of the spinal cord and brain Is a False Congenital absence Inferred relationship Some
    Congenital absence of liver Is a False Congenital absence Inferred relationship Some
    Agenesis of nerve (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of thymus Is a False Congenital absence Inferred relationship Some
    Congenital absence of uterus Is a False Congenital absence Inferred relationship Some
    Congenital absence of spine Is a False Congenital absence Inferred relationship Some
    Congenital absence of spleen Is a False Congenital absence Inferred relationship Some
    Congenital absence of nose Is a False Congenital absence Inferred relationship Some
    Congenital absence of artery Is a False Congenital absence Inferred relationship Some
    Congenital absence of gallbladder Is a False Congenital absence Inferred relationship Some
    Agenesis of eye Is a False Congenital absence Inferred relationship Some
    Congenital absence of trachea Is a False Congenital absence Inferred relationship Some
    Congenital absence of vagina Is a False Congenital absence Inferred relationship Some
    Congenital absence of vein Is a False Congenital absence Inferred relationship Some
    Congenital absence of penis Is a False Congenital absence Inferred relationship Some
    Congenital absence of broad ligament Is a False Congenital absence Inferred relationship Some
    Congenital absence of urethra Is a False Congenital absence Inferred relationship Some
    Congenital absence of spermatic cord Is a False Congenital absence Inferred relationship Some
    Congenital absence of skeletal bone Is a False Congenital absence Inferred relationship Some
    Congenital absence of adrenal gland Is a False Congenital absence Inferred relationship Some
    Renal agenesis Is a False Congenital absence Inferred relationship Some
    Congenital absence of ureter Is a False Congenital absence Inferred relationship Some
    Congenital absence of pancreas (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of genital tubercle Is a False Congenital absence Inferred relationship Some
    Congenital absence of prostate Is a False Congenital absence Inferred relationship Some
    Congenital absence of jaw Is a False Congenital absence Inferred relationship Some
    Congenital absence of ear Is a False Congenital absence Inferred relationship Some
    Congenital absence of parathyroid gland Is a False Congenital absence Inferred relationship Some
    Agenesis of larynx (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of bile duct Is a False Congenital absence Inferred relationship Some
    Congenital absence of lung Is a False Congenital absence Inferred relationship Some
    Anorectal agenesis Is a False Congenital absence Inferred relationship Some
    Congenital absence of bronchus Is a False Congenital absence Inferred relationship Some
    Congenital absence of fallopian tube Is a False Congenital absence Inferred relationship Some
    Absent eyebrow Is a False Congenital absence Inferred relationship Some
    Ablepharon Is a False Congenital absence Inferred relationship Some
    Congenital complete absence of limb Is a False Congenital absence Inferred relationship Some
    Acephaly Is a False Congenital absence Inferred relationship Some
    Congenital absence of liver and/or gallbladder (disorder) Is a False Congenital absence Inferred relationship Some
    Aplasia cutis congenita (disorder) Is a False Congenital absence Inferred relationship Some
    Congenital absence of breast Is a False Congenital absence Inferred relationship Some
    Congenital absence of eye bulge Is a False Congenital absence Inferred relationship Some
    Congenital absence of thyroid gland Is a False Congenital absence Inferred relationship Some
    Congenital aniridia (disorder) Is a False Congenital absence Inferred relationship Some
    Partial agenesis of pericardium Is a False Congenital absence Inferred relationship Some
    Congenital absence of renal papilla Is a False Congenital absence Inferred relationship Some
    Partial congenital absence of limb Is a False Congenital absence Inferred relationship Some
    Acephalostomia Is a False Congenital absence Inferred relationship Some
    Congenital absence of upper limb Is a False Congenital absence Inferred relationship Some
    Congenital aphakia Is a False Congenital absence Inferred relationship Some
    Congenital absence of cervix Is a False Congenital absence Inferred relationship Some
    A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Is a False Congenital absence Inferred relationship Some
    A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Is a False Congenital absence Inferred relationship Some
    A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. Is a False Congenital absence Inferred relationship Some
    Congenital absence of pelvis and lower limb Is a False Congenital absence Inferred relationship Some
    Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Is a False Congenital absence Inferred relationship Some
    Acephalothorax Is a False Congenital absence Inferred relationship Some
    Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Is a False Congenital absence Inferred relationship Some
    Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. Is a False Congenital absence Inferred relationship Some
    Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. Is a False Congenital absence Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

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