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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 Reference Sets
3330759010 Osteosclerosis, ichthyosis, premature ovarian failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Congenital ichthyosis of skin true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Premature ovarian failure true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Dysplasia with increased bone density (disorder) true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Ovarian endocrine structure false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Decline in functional status (finding) false Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a Decreased hormone secretion true Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Occurrence Congenital true Inferred relationship Some 1
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Ovarian endocrine structure true Inferred relationship Some 1
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 Has interpretation Decreased true Inferred relationship Some 2
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Interprets Hormone secretion true Inferred relationship Some 2
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 Occurrence Congenital true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Skin structure false Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Entire skin true Inferred relationship Some 3
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Occurrence Congenital false Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Bone structure false Inferred relationship Some 4
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 Has interpretation Abnormal true Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Interprets Keratinization true Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Occurrence Congenital true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Skin structure false Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Finding site Bone structure true Inferred relationship Some 5
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 Associated morphology Dysplasia true Inferred relationship Some 5
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Has interpretation Above reference range true Inferred relationship Some 6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Interprets Bone density scan true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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