726080006: Autosomal recessive hypophosphatemic rickets (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447970011 Autosomal recessive hypophosphatemic rickets (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447971010 Autosomal recessive hypophosphatemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447972015 Autosomal recessive hypophosphataemic rickets en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

873251000172118 ARHR - autosomal recessive hypophosphatemic rickets fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1009761000172118 rachitisme hypophosphatémique autosomique récessif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
rachitisme hypophosphatémique autosomique récessif	Is a	Rickets	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique récessif	Is a	Autosomal recessive hypophosphatemic bone disease	false	Inferred relationship	Some
rachitisme hypophosphatémique autosomique récessif	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
rachitisme hypophosphatémique autosomique récessif	Finding site	Structure of epiphyseal plate (body structure)	false	Inferred relationship	Some	3
rachitisme hypophosphatémique autosomique récessif	Interprets	Physiologic mineralization of bone	false	Inferred relationship	Some	2
rachitisme hypophosphatémique autosomique récessif	Has interpretation	Deficient	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	False	rachitisme hypophosphatémique autosomique récessif	Inferred relationship	Some
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.	Is a	False	rachitisme hypophosphatémique autosomique récessif	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)