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773396009: Distal arthrogryposis type 5D (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 Reference Sets
3723375011 Distal arthrogryposis type 5D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3723376012 Distal arthrogryposis type 5D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3723377015 Distal arthrogryposis type 5 without ophthalmoparesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3723378013 Distal arthrogryposis type 5 without ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3723379017 DA5D - distal arthrogryposis type 5D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3723380019 A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal arthrogryposis type 5D (disorder) Associated morphology Contracture true Inferred relationship Some 1
Distal arthrogryposis type 5D (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Distal arthrogryposis type 5D (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis type 5D (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Distal arthrogryposis type 5D (disorder) Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis type 5D (disorder) Has interpretation Decreased true Inferred relationship Some 2
Distal arthrogryposis type 5D (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis type 5D (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Distal arthrogryposis type 5D (disorder) Finding site Structure of joint region 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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