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770679002: syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze (aandoening)


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
6712541000146111 syndroom van Lundberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6712551000146114 Lundberg-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8725081000146118 syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8725091000146116 syndroom van polyneuropathie, mentale retardatie, brachydactylie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8725101000146111 syndroom van polyneuropathie, verstandelijke handicap, acromicrie en vroegtijdige menopauze nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8725111000146113 syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) 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 congenitale kleinheid false 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
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Congenital neurological disorder (disorder) true Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a Congenital hypergonadotropic hypogonadism (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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