782785002: X-linked osteoporosis with fractures (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\X-linked osteoporosis with fractures

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked osteoporosis with fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked osteoporosis with fractures
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked osteoporosis with fractures
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked osteoporosis with fractures
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\X-linked osteoporosis with fractures
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\X-linked osteoporosis with fractures

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755754019 X-linked osteoporosis with fractures en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755755018 X-linked osteoporosis with fractures (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755756017 A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7654461000172112 ostéoporose fracturaire liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7654471000172115 ostéoporose liée au chromosome X associée à des fractures fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5525601000172117 X-gebonden osteoporose met fracturen nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked osteoporosis with fractures	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
X-linked osteoporosis with fractures	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
X-linked osteoporosis with fractures	Finding site	Bone structure	true	Inferred relationship	Some	1
X-linked osteoporosis with fractures	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked osteoporosis with fractures	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked osteoporosis with fractures	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked osteoporosis with fractures	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked osteoporosis with fractures	Interprets	Bone density scan	true	Inferred relationship	Some	2
X-linked osteoporosis with fractures	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X-linked osteoporosis with fractures	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked osteoporosis with fractures	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3755754019	X-linked osteoporosis with fractures	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755755018	X-linked osteoporosis with fractures (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755756017	A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7654461000172112	ostéoporose fracturaire liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7654471000172115	ostéoporose liée au chromosome X associée à des fractures	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5525601000172117	X-gebonden osteoporose met fracturen	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)