FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

43451003: Congenital deficiency (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    72478017 Congenital deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    780465010 Congenital deficiency (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital deficiency Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital pancreatic enterokinase deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital iodine deficiency syndrome of mixed type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital iodine deficiency syndrome of neurological type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Growth hormone receptor absent Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Growth hormone receptor abnormality Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Waardenburg syndrome type 3 Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Temperature-sensitive oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Horner's teeth Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Chédiak-Higashi syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Brown oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Oculocutaneous albinoidism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Aland eye disease and ocular albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Cross syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Autosomal recessive isolated somatotropin deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital deficiency of pigment of skin Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Ocular albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Pituitary dwarfism with large sella turcica Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Hypopigmentation-immunodeficiency disease Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Laron-type isolated somatotropin defect Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Pituitary dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Pituitary dwarfism with normal somatotropin level AND low somatomedin Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Ocular albinism-lentigines-deafness syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Albinoidism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital pancreatic trypsin deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Punctate oculocutaneous albinoidism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Rufous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Myxedematous form of cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Partial albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Ateleiotic dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Woolf's syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Endemic cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Ocular albinism, type I Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Autosomal recessive ocular albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Yellow mutant oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Pituitary dwarfism with small sella turcica Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Hermansky-Pudlak syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital hypopigmentation of choroid Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital myelin deficiency of the optic disc Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital iodine deficiency syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital hypothyroidism without goiter Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital thyroid hypoplasia Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital atrophy of thyroid Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Neurologic form of cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital hypothyroidism with diffuse goiter Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Sporadic cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Congenital malposition of the thyroid gland Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Pituitary dwarfism NOS Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Other specified pituitary dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Albinism-deafness syndrome of Tietz Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Ziprkowski-Margolis syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Phylloid hypomelanosis Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Horner's teeth Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital myelin deficiency of the optic disc Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital hypopigmentation of choroid Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital pancreatic trypsin deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Congenital pancreatic enterokinase deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 1
    Endemic congenital iodine deficiency syndrome of myxedematous type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier
    Cutis laxa with osteodystrophy Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 2
    Cutis laxa with osteodystrophy Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier 2

    This concept is not in any reference sets

    Back to Start