719202006: Spondyloepiphyseal dysplasia tarda Kohn type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\Intellectual disability\Spondyloepiphyseal dysplasia tarda Kohn type
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\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

\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\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
\Disease\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\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
\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 malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Spondyloepiphyseal dysplasia tarda Kohn type
\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
\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

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 SNOMED CT core module

3315403012 Spondyloepiphyseal dysplasia tarda Kohn type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

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
3315402019	Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3315403012	Spondyloepiphyseal dysplasia tarda Kohn type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module