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1268409009: Congenital radioulnar synostosis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5179663013 Congenital radioulnar synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5179664019 Congenital radioulnar synostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital radioulnar synostosis Is a Failure of differentiation of bones of forearm true Inferred relationship Some
Congenital radioulnar synostosis Is a Radioulnar synostosis true Inferred relationship Some
Congenital radioulnar synostosis Is a Congenital abnormal fusion of radius true Inferred relationship Some
Congenital radioulnar synostosis Is a Congenital abnormal fusion of ulna true Inferred relationship Some
Congenital radioulnar synostosis Occurrence Congenital true Inferred relationship Some 1
Congenital radioulnar synostosis Finding site Bone structure of ulna true Inferred relationship Some 1
Congenital radioulnar synostosis Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Congenital radioulnar synostosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital radioulnar synostosis Occurrence Congenital true Inferred relationship Some 2
Congenital radioulnar synostosis Finding site Bone structure of radius true Inferred relationship Some 2
Congenital radioulnar synostosis Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Congenital radioulnar synostosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital radioulnar synostosis Associated morphology Fusion that has occurred in a structure that is not normally fused. true Inferred relationship Some 1
Congenital radioulnar synostosis Associated morphology Fusion that has occurred in a structure that is not normally fused. true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Is a True Congenital radioulnar synostosis Inferred relationship Some
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Is a True Congenital radioulnar synostosis Inferred relationship Some
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). Is a True Congenital radioulnar synostosis Inferred relationship Some
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). Is a True Congenital radioulnar synostosis Inferred relationship Some
Radioulnar synostosis of bilateral upper limbs Is a False Congenital radioulnar synostosis Inferred relationship Some
Radioulnar synostosis and dislocation of radial head Is a True Congenital radioulnar synostosis Inferred relationship Some
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. Is a True Congenital radioulnar synostosis Inferred relationship Some
Congenital radioulnar synostosis of left forearm (disorder) Is a True Congenital radioulnar synostosis Inferred relationship Some
Congenital radioulnar synostosis of right forearm (disorder) Is a True Congenital radioulnar synostosis Inferred relationship Some

This concept is not in any reference sets

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