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50493007: Congenital hyperplasia (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
    84116013 Congenital hyperplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    788287017 Congenital hyperplasia (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 hyperplasia Is a Congenital growth alteration false Inferred relationship Some
    Congenital hyperplasia Is a Hyperplasia false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital horizontal mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital vertical mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital transverse mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital alveolar hyperplasia of mandible (disorder) Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital alveolar hyperplasia of maxilla Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of sebaceous glands of lip Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital maxillary hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Mild steroid 21-hydroxylase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Steroid 21-monooxygenase deficiency, simple virilizing type Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of kidney Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    Congenital hyperplasia of muscle Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hypertrophy of retinal pigment epithelium Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    17 alpha-Hydroxyprogesterone aldolase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of muscle Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    17 alpha-Hydroxyprogesterone aldolase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital alveolar hyperplasia of maxilla Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Steroid 21-monooxygenase deficiency, simple virilizing type Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital horizontal mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital maxillary hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital hypertrophy of retinal pigment epithelium Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital alveolar hyperplasia of mandible (disorder) Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital vertical mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital transverse mandibular hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital hyperplasia of sebaceous glands of lip Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Hyperplasia of islet alpha cells with gastrin excess Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    Hyperplasia of islet alpha cells with glucagon excess Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    Hyperplasia of pancreatic islet beta cell Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    Islet cell hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital hyperplasia of sebaceous glands of lip Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital hyperplasia of intrahepatic bile duct Associated morphology False Congenital hyperplasia Inferred relationship Some 2
    Testosterone 17-beta-dehydrogenase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Deficiency of steroid 11-beta-monooxygenase Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Corticosterone 18-monooxygenase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Deficiency of steroid 17-alpha-monooxygenase Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Pseudohermaphrodite, female with adrenocortical disorder Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Virilisation-adrenogenital syndrome Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital adrenal hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Late onset congenital adrenal hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Salt-losing congenital adrenal hyperplasia Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    CAH - desmolase deficiency Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Salt-losing congenital adrenal hyperplasia with virilism Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Congenital hyperplasia of muscle Associated morphology False Congenital hyperplasia Inferred relationship Some 3
    Congenital hyperplasia of sebaceous glands of lip Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. Associated morphology False Congenital hyperplasia Inferred relationship Some 2
    A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. Associated morphology False Congenital hyperplasia Inferred relationship Some 2
    Hyperinsulinism due to focal adenomatous hyperplasia (disorder) Associated morphology False Congenital hyperplasia Inferred relationship Some 1
    Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Associated morphology False Congenital hyperplasia Inferred relationship Some 4
    Congenital hyperplasia of lung Associated morphology False Congenital hyperplasia Inferred relationship Some 1

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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