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771269000: Autosomal dominant multiple pterygium syndrome (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3705361012 Autosomal dominant multiple pterygium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3705362017 Distal arthrogryposis type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3705363010 Autosomal dominant multiple pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3705364016 A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13. 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
Autosomal dominant multiple pterygium syndrome (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Autosomal dominant multiple pterygium syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant multiple pterygium syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome (disorder) Finding site Joint structure of limb false Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome (disorder) Is a Multiple pterygium syndrome true Inferred relationship Some
Autosomal dominant multiple pterygium syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 2
Autosomal dominant multiple pterygium syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Autosomal dominant multiple pterygium syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Autosomal dominant multiple pterygium syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Autosomal dominant multiple pterygium syndrome (disorder) Associated morphology Congenital webbing true Inferred relationship Some 3
Autosomal dominant multiple pterygium syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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