719202006: Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\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\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Congenital disease (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\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
\Disease\Developmental 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\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 of stature\Short stature 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

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

3890521000052112 spondyloepifyseal dysplasi med sen debut, Kohn-typ sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	Spondyloepiphyseal dysplasia tarda	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3890521000052112	spondyloepifyseal dysplasi med sen debut, Kohn-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)