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299710007: Entire middle phalanx (body structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
440673018 Entire middle phalanx en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
695299014 Entire middle phalanx (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Entire middle phalanx Is a Entire phalanx true Inferred relationship Some
Entire middle phalanx partie de Entire bony skeleton false Additional relationship Some
Entire middle phalanx partie de Entire digit false Additional relationship Some
Entire middle phalanx Laterality Side (qualifier value) true Inferred relationship Some
Entire middle phalanx Is a Structure of middle phalanx (body structure) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Entire middle phalanx of lesser toe Is a True Entire middle phalanx Inferred relationship Some
Entire middle phalanx of hand Is a False Entire middle phalanx Inferred relationship Some
Entire middle phalanx of hand Is a False Entire middle phalanx 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. Finding site True Entire middle phalanx Inferred relationship Some 2
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. Finding site False Entire middle phalanx Inferred relationship Some 3
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. Finding site True Entire middle phalanx Inferred relationship Some 1
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. Finding site True Entire middle phalanx Inferred relationship Some 1
Brachymesophalangia Finding site True Entire middle phalanx Inferred relationship Some 1
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. Finding site True Entire middle phalanx Inferred relationship Some 1
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. Finding site True Entire middle phalanx Inferred relationship Some 1

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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