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722114007: Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330759010 Osteosclerosis, ichthyosis, premature ovarian failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330760017 Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330771016 Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330761018 This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome survenue (attribut) congénital true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome a pour interprétation (attribut) anormal true Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Decline in functional status (finding) false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome interprète (attribut) ostéodensitométrie true Inferred relationship Some 6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) Entire skin true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Decreased hormone secretion false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) ichtyose congénitale true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Premature ovarian failure true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Dysplasia with increased bone density true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) Ovarian endocrine structure false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome survenue (attribut) congénital false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome survenue (attribut) congénital true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome survenue (attribut) congénital true Inferred relationship Some 1
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome localisation d'une constatation (attribut) Ovarian endocrine structure true Inferred relationship Some 1
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome a pour interprétation (attribut) Decreased true Inferred relationship Some 2
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome interprète (attribut) Hormone secretion true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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