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770679002: Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702083014 Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702084015 Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702085019 Lundberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702086018 A rare genetic syndromic intellectual disability with characteristics of intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14495401000172112 syndrome de polyneuropathie, déficience intellectuelle, acromicrie et ménopause prématurée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14495411000172110 syndrome de Lundberg fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4382691000172117 syndroom van polyneuropathie, verstandelijke handicap, acromicrie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4382701000172117 syndroom van Lundberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4382711000172119 Lundberg-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4382721000172112 syndroom van polyneuropathie, mentale retardatie, brachydactylie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4382731000172110 syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Ovarian endocrine structure true Inferred relationship Some 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Micromelia true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Peripheral nerve structure true Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Hormone secretion true Inferred relationship Some 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Premature ovarian failure true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Polyneuropathy true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Entire limb true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Impaired 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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