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715657008: familiaire osteonecrose van femurkop (aandoening)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3303321019 Familial avascular necrosis of head of femur en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303322014 Familial avascular necrosis of femoral head en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6529241000146112 familiaire avasculaire necrose van caput femoris nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14503271000146119 familiaire osteonecrose van femurkop (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14503281000146117 familiale aseptische osteonecrose van caput femoris nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14503291000146115 familiaire osteonecrose van femurkop nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14503301000146116 familiaire botnecrose van femurkop nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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