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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) survenue (attribut) congénital true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) localisation d'une constatation (attribut) Ovarian endocrine structure true Inferred relationship Some 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) Micromelia true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) interprète (attribut) Hormone secretion true Inferred relationship Some 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) Premature ovarian failure true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) polyneuropathie true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) localisation d'une constatation (attribut) Entire limb true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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