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715657008: Familial avascular necrosis of head of femur (disorder)


Status: current, Defined. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303319012 Familial avascular necrosis of head of femur (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3303321019 Familial avascular necrosis of head of femur en Synonym Active Case insensitive SNOMED CT core
3303322014 Familial avascular necrosis of femoral head en Synonym Active Case insensitive SNOMED CT core
3303323016 A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial avascular necrosis of head of femur Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial avascular necrosis of head of femur Is a Avascular necrosis of the head of femur true Inferred relationship Some
Familial avascular necrosis of head of femur Is a Inherited disorder of connective tissue false Inferred relationship Some
Familial avascular necrosis of head of femur Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Familial avascular necrosis of head of femur Associated morphology Avascular necrosis true Inferred relationship Some 1
Familial avascular necrosis of head of femur Finding site Structure of head of femur true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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