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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
5404874010 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by 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
5404875011 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterised by 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
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
5404874010 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by 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
5404875011 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterised by 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
3393511001000119 Polyneuropathie-Intelligenzminderung-Akromikrie-vorzeitige Menopause-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446231000241116 syndrome de polyneuropathie, déficience intellectuelle, acromicrie et ménopause prématurée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446241000241114 syndrome de Lundberg fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446231000241116 syndrome de polyneuropathie, déficience intellectuelle, acromicrie et ménopause prématurée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6446241000241114 syndrome de Lundberg fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393511001000119 Polyneuropathie-Intelligenzminderung-Akromikrie-vorzeitige Menopause-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept) 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Ovarian endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Micromelia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Peripheral nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Hormone secretion true Inferred relationship Existential restriction modifier (core metadata concept) 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Premature ovarian failure true Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Polyneuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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