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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3702084015 Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome en Synonym Active Case insensitive SNOMED CT core
3702085019 Lundberg syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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