765204000: Dyssegmental dysplasia Silverman Handmaker type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker 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\Dyssegmental dysplasia Silverman Handmaker type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dyssegmental dysplasia Silverman Handmaker type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker 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\Dyssegmental dysplasia Silverman Handmaker type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker 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\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Developmental hereditary disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Dyssegmental dysplasia Silverman Handmaker type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Dyssegmental dysplasia Silverman Handmaker type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3657441012 Dyssegmental dysplasia Silverman Handmaker type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3657442017 Dyssegmental dysplasia Silverman Handmaker 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
Dyssegmental dysplasia Silverman Handmaker type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Finding site	Bone structure of extremity	false	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Dyssegmental dysplasia Silverman Handmaker type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Dyssegmental dysplasia Silverman Handmaker type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

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
3657441012	Dyssegmental dysplasia Silverman Handmaker type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3657442017	Dyssegmental dysplasia Silverman Handmaker type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module