719202006: Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315402019	Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315403012	Spondyloepiphyseal dysplasia tarda Kohn type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401997013	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401998015	Spondyloepiphyseal dysplasia tarda, Kohn type is characterised by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315402019	Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315403012	Spondyloepiphyseal dysplasia tarda Kohn type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315404018	Disease with characteristics of short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.The syndrome has been described in three daughters born to healthy consanguineous parents. The skeletal disorder usually manifests in late childhood. Typical radiographic features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes. Autosomal recessive transmission has been suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401997013	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401998015	Spondyloepiphyseal dysplasia tarda, Kohn type is characterised by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408441001000119	Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962251000172111	dysplasie spondylo-épiphysaire tardive type Kohn	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962251000172111	dysplasie spondylo-épiphysaire tardive type Kohn	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408441001000119	Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn	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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