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43451003: Congenital deficiency (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    72478017 Congenital deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    780465010 Congenital deficiency (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    72478017 Congenital deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    72478017 Congenital deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    780465010 Congenital deficiency (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    780465010 Congenital deficiency (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 deficiency Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
    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 (core metadata concept)
    Congenital pancreatic enterokinase deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital iodine deficiency syndrome of mixed type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital iodine deficiency syndrome of neurological type Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Growth hormone receptor absent Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Growth hormone receptor abnormality (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Waardenburg syndrome type 3 (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Minimal pigment oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Temperature-sensitive oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Horner's teeth (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Chédiak-Higashi syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Brown oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocutaneous albinoidism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Aland eye disease and ocular albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Cross syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal recessive isolated somatotropin deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital deficiency of pigment of skin Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Tyrosinase-positive oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Ocular albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Pituitary dwarfism with large sella turcica (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Hypopigmentation-immunodeficiency disease Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Laron-type isolated somatotropin defect Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Pituitary dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Pituitary dwarfism with normal somatotropin level AND low somatomedin Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Ocular albinism-lentigines-deafness syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    albinoïdisme Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital pancreatic trypsin deficiency (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Punctate oculocutaneous albinoidism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Rufous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Myxedematous form of cretinism (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Partial albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Tyrosinase-negative oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Ateleiotic dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Woolf's syndrome (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Endemic cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Ocular albinism, type I Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal recessive ocular albinism (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal dominant oculocutaneous albinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Yellow mutant oculocutaneous albinism (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Pituitary dwarfism with small sella turcica Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Hermansky-Pudlak syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hypopigmentation of choroid (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital myelin deficiency of the optic disc Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital iodine deficiency syndrome Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hypothyroidism without goitre Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital thyroid hypoplasia Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital atrophy of thyroid Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Neurologic form of cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hypothyroidism with diffuse goiter (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Sporadic cretinism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital malposition of the thyroid gland Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Pituitary dwarfism NOS Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Other specified pituitary dwarfism Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Albinism-deafness syndrome of Tietz (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Ziprkowski-Margolis syndrome (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Phylloid hypomelanosis Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Horner's teeth (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital myelin deficiency of the optic disc Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypopigmentation of choroid (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital pancreatic trypsin deficiency (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital pancreatic enterokinase deficiency Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
    Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Cutis laxa with osteodystrophy Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 2
    Cutis laxa with osteodystrophy Associated morphology False Congenital deficiency Inferred relationship Existential restriction modifier (core metadata concept) 2

    This concept is not in any reference sets

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