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43451003: Congenital deficiency (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

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

    Reference Sets

    Australian dialect reference set

    Description inactivation indicator reference set

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