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


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
5401017010 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401018017 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303319012 Familial avascular necrosis of head of femur (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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
5401017010 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401018017 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441501001000116 Avaskuläre Nekrose des Femurkopfes, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475961000241111 nécrose avasculaire de la tête du fémur d'origine familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475961000241111 nécrose avasculaire de la tête du fémur d'origine familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441501001000116 Avaskuläre Nekrose des Femurkopfes, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Is a Osteonecrosis of head of femur true Inferred relationship Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Associated morphology Avascular necrosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial avascular necrosis of head of femur (disorder) Finding site Structure of head of femur true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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