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253975004: Symphalangism (disorder)

Status: current, 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
378101012 Symphalangism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2746982015 Symphalangism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5080691000241117 symphalangisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

29 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Symphalangism Is a Congenital anomaly of joint true Inferred relationship Some
Symphalangism Is a Lesion of joint false Inferred relationship Some
Symphalangism Is a Syndactyly (disorder) false Inferred relationship Some
Symphalangism Associated morphology Congenital ankylosis false Inferred relationship Some 1
Symphalangism Occurrence Congenital true Inferred relationship Some 1
Symphalangism Finding site Interphalangeal joint structure (body structure) true Inferred relationship Some 1
Symphalangism Is a Ankylosis of joint (disorder) true Inferred relationship Some
Symphalangism Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Symphalangism Associated morphology Ankylosis true Inferred relationship Some 1
Symphalangism Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. Is a True Symphalangism Inferred relationship Some
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. Is a False Symphalangism Inferred relationship Some
A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. Is a True Symphalangism Inferred relationship Some
Proximal interphalangeal joint symphalangism Is a True Symphalangism Inferred relationship Some
Distal interphalangeal joint symphalangism Is a True Symphalangism Inferred relationship Some
Congenital ankylosis of interphalangeal joint of toe Is a True Symphalangism Inferred relationship Some
Congenital ankylosis of interphalangeal joint of hand (disorder) Is a True Symphalangism Inferred relationship Some

Reference Sets

GB English

US English

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