719202006: Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type

\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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type

\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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\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

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3315403012 Spondyloepiphyseal dysplasia tarda Kohn type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia tarda Kohn type	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda Kohn type	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia tarda Kohn type	Has interpretation	Impaired	true	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia tarda Kohn type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia tarda Kohn type	Has interpretation	Impaired	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia tarda Kohn type	Is a	Spondyloepiphyseal dysplasia tarda	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type	Is a	Intellectual disability	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315402019	Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3315403012	Spondyloepiphyseal dysplasia tarda Kohn type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core