773303005: Spondyloepimetaphyseal dysplasia Genevieve type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type

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

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve 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\Spondyloepimetaphyseal dysplasia Genevieve type

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve 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\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Developmental delay\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3723047017 Spondyloepimetaphyseal dysplasia Genevieve type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3723048010 Spondyloepimetaphyseal dysplasia Geneviève type en Synonym Active Only initial character case insensitive SNOMED CT core module

3723049019 Spondyloepimetaphyseal dysplasia Genevieve type en Synonym Active Only initial character case insensitive SNOMED CT core module

3723050019 SEMDG - spondyloepimetaphyseal dysplasia Genevieve type en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia Genevieve type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia Genevieve type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Spondyloepimetaphyseal dysplasia Genevieve type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Spondyloepimetaphyseal dysplasia Genevieve type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

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
3723047017	Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3723048010	Spondyloepimetaphyseal dysplasia Geneviève type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3723049019	Spondyloepimetaphyseal dysplasia Genevieve type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3723050019	SEMDG - spondyloepimetaphyseal dysplasia Genevieve type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module