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38998004: Brachyphalangia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
65413010 Brachyphalangia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
775369012 Brachyphalangia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
124611000077115 brachyphalangie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachyphalangia Is a Brachydactyly true Inferred relationship Some
Brachyphalangia Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Brachyphalangia Finding site Phalanx structure false Inferred relationship Some 1
Brachyphalangia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Brachyphalangia Occurrence Congenital false Inferred relationship Some
Brachyphalangia Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Some
Brachyphalangia Associated morphology anomalie du développement false Inferred relationship Some
Brachyphalangia Associated morphology anomalie congénitale false Inferred relationship Some 2
Brachyphalangia Finding site Limb structure false Inferred relationship Some 2
Brachyphalangia Is a déformation d'un os false Inferred relationship Some
Brachyphalangia Finding site Phalanx structure false Inferred relationship Some 1
Brachyphalangia Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Brachyphalangia Occurrence Congenital false Inferred relationship Some 2
Brachyphalangia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Brachyphalangia Finding site Phalanx structure false Inferred relationship Some 2
Brachyphalangia Occurrence Congenital true Inferred relationship Some 1
Brachyphalangia Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Brachyphalangia Is a Longitudinal deficiency of part of limb (disorder) false Inferred relationship Some
Brachyphalangia Finding site Entire phalanx true Inferred relationship Some 1
Brachyphalangia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachyphalangia Is a Deformation of bone false Inferred relationship Some
Brachyphalangia Is a Congenital deformity of musculoskeletal system (disorder) false Inferred relationship Some
Brachyphalangia Is a Abnormally short long bone (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Brachymesophalangia Is a True Brachyphalangia Inferred relationship Some
Brachyphalangia of toe Is a True Brachyphalangia Inferred relationship Some
Symbrachydactyly Is a False Brachyphalangia Inferred relationship Some
Brachyphalangia of little toe Is a False Brachyphalangia Inferred relationship Some
Longitudinal deficiency of phalanges of hand Is a True Brachyphalangia Inferred relationship Some
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Is a True Brachyphalangia Inferred relationship Some
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Is a True Brachyphalangia 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 Brachyphalangia Inferred relationship Some

This concept is not in any reference sets

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