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719951002: syndroom van trifalangeale digitus I en brachyectrodactylie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318564019 Triphalangeal thumb with brachyectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318565018 Triphalangeal thumb with brachyectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318566017 Carnevale Hernandez del Castillo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6394961000146111 syndroom van Carnevale Hernandez del Castillo nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6394971000146117 Carnevale Hernandez del Castillo-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6952391000146110 syndroom van trifalangeale duim en brachyectrodactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12021391000146110 syndroom van trifalangeale digitus I en brachyectrodactylie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12208541000146116 syndroom van trifalangeale digitus I en brachyectrodactylie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3318567014 This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. 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
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a Triphalangeal thumb true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a Brachydactyly of hand true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Finding site Thumb structure false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Finding site Entire digit of hand false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Some 3
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Finding site Thumb structure false Inferred relationship Some 3
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Finding site Entire digit of hand true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Finding site Bone structure of phalanx of thumb true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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