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82236004: Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder)


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
136398017 Familial x-linked hypophosphatemic vitamin D refractory rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136399013 Familial hypophosphatemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136400018 Familial hypophosphatemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136401019 Familial hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136402014 Vitamin D-resistant rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136403016 Vitamin D-resistant osteomalacia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136406012 Hereditary hypophosphatemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504960019 X-linked vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504961015 Familial vitamin D-resistant rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504962010 Familial hypophosphatemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504963017 HPDR I - Hypophosphatemic vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504964011 X-linked hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504965012 X-linked hypophosphatemic rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504967016 Familial hypophosphataemic osteomalacia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504968014 Hereditary hypophosphataemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504970017 X-linked hypophosphataemic osteomalacia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504971018 X-linked hypophosphataemic rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504972013 HPDR I - Hypophosphataemic vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504973015 Familial hypophosphataemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504974014 Familial hypophosphataemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504975010 Familial hypophosphataemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504976011 Familial x-linked hypophosphataemic vitamin D refractory rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
823616015 Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136398017 Familial x-linked hypophosphatemic vitamin D refractory rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136399013 Familial hypophosphatemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136399013 Familial hypophosphatemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136400018 Familial hypophosphatemic rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136400018 Familial hypophosphatemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136401019 Familial hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136401019 Familial hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136402014 Vitamin D-resistant rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136403016 Vitamin D-resistant osteomalacia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136404010 VDRR en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136405011 XLH en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
136406012 Hereditary hypophosphatemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136406012 Hereditary hypophosphatemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504960019 X-linked vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504961015 Familial vitamin D-resistant rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504962010 Familial hypophosphatemic bone disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504962010 Familial hypophosphatemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504963017 HPDR I - Hypophosphatemic vitamin D-resistant rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504963017 HPDR I - Hypophosphatemic vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504964011 X-linked hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504964011 X-linked hypophosphatemic osteomalacia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504965012 X-linked hypophosphatemic rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504965012 X-linked hypophosphatemic rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504966013 Hypophosphatemic rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504967016 Familial hypophosphataemic osteomalacia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504967016 Familial hypophosphataemic osteomalacia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504968014 Hereditary hypophosphataemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504968014 Hereditary hypophosphataemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504969018 Hypophosphataemic rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504970017 X-linked hypophosphataemic osteomalacia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504971018 X-linked hypophosphataemic rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504972013 HPDR I - Hypophosphataemic vitamin D-resistant rickets en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
504973015 Familial hypophosphataemic bone disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504973015 Familial hypophosphataemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504974014 Familial hypophosphataemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504974014 Familial hypophosphataemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504975010 Familial hypophosphataemic rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504975010 Familial hypophosphataemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504976011 Familial x-linked hypophosphataemic vitamin D refractory rickets en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
823616015 Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3382011001000119 Hypophosphatämie, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4658491000241110 rachitisme hypophosphatémique familial lié à l'X résistant à la vitamine D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4658491000241110 rachitisme hypophosphatémique familial lié à l'X résistant à la vitamine D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382011001000119 Hypophosphatämie, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Rickets true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Congenital anomaly of cartilage false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Hypophosphatemia true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Specific renal tubule transport defect (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Dysplasia with defective mineralization true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Cartilaginous tissue structure false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Osteoid tissue false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Osteoid tissue true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Due to Specific renal tubule transport defect (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology Impaired mineralization (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Lesion of bone true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a Arthropathy associated with another disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Finding site Structure of epiphyseal plate (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Familial x-linked hypophosphatemic vitamin D refractory rickets Interprets Physiologic mineralization of bone, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial x-linked hypophosphatemic vitamin D refractory rickets Has interpretation Deficient true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant hypophosphatemic rickets Is a False Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a False Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic bone disease Is a False Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets Is a False Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets Is a False Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)
Hypophosphatemic rickets with nephrotic-glycosuric dwarfism Is a True Familial x-linked hypophosphatemic vitamin D refractory rickets Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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