FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

205317004: Brachymesophalangia (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
314843010 Brachymesophalangia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590665017 Brachymesophalangia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4884521000241116 brachymésophalangie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachymesophalangia Is a Brachyphalangia true Inferred relationship Some
Brachymesophalangia Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Some 1
Brachymesophalangia Finding site Phalanx structure false Inferred relationship Some 1
Brachymesophalangia Occurrence Congenital false Inferred relationship Some
Brachymesophalangia Associated morphology anomalie du développement false Inferred relationship Some
Brachymesophalangia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Brachymesophalangia Finding site Limb structure false Inferred relationship Some 2
Brachymesophalangia Associated morphology anomalie congénitale false Inferred relationship Some 2
Brachymesophalangia Finding site Phalanx structure false Inferred relationship Some 1
Brachymesophalangia Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Brachymesophalangia Occurrence Congenital false Inferred relationship Some 2
Brachymesophalangia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Brachymesophalangia Finding site Phalanx structure false Inferred relationship Some 2
Brachymesophalangia Occurrence Congenital true Inferred relationship Some 1
Brachymesophalangia Finding site Entire phalanx false Inferred relationship Some 1
Brachymesophalangia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachymesophalangia Finding site Entire middle phalanx true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated. Is a True Brachymesophalangia Inferred relationship Some
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. Is a True Brachymesophalangia Inferred relationship Some
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Is a True Brachymesophalangia 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 True Brachymesophalangia Inferred relationship Some
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. Is a True Brachymesophalangia Inferred relationship Some

This concept is not in any reference sets

Back to Start