715505002: Rhizomelic dysplasia of Patterson Lowry type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Genetic disease\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic dysplasia of Patterson Lowry type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Rhizomelic dysplasia of Patterson Lowry type (disorder)

Status: current, Not 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
3302855017	Rhizomelic dysplasia of Patterson Lowry type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302856016	Rhizomelic dysplasia of Patterson Lowry type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302857013	Rhizomelic dysplasia Patterson Lowry type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400933015	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400934014	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterised by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302855017	Rhizomelic dysplasia of Patterson Lowry type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302856016	Rhizomelic dysplasia of Patterson Lowry type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302857013	Rhizomelic dysplasia Patterson Lowry type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5170084010	A rare primary bone dysplasia with characteristics of short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400933015	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400934014	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterised by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392941001000115	Dysplasie, rhizomele, Typ Patterson-Lowry	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871311000172114	dysplasie rhizomélique de Patterson-Lowry	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871311000172114	dysplasie rhizomélique de Patterson-Lowry	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392941001000115	Dysplasie, rhizomele, Typ Patterson-Lowry	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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