782941005: Richieri Costa-da Silva syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Richieri Costa-da Silva syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Richieri Costa-da Silva syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Richieri Costa-da Silva syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Richieri Costa-da Silva syndrome

\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\Richieri Costa-da Silva syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Richieri Costa-da Silva syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\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\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Richieri Costa-da Silva syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3756872010 Richieri Costa-da Silva syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3756873017 Myotonia, intellectual disability, skeletal anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3756874011 Richieri Costa-da Silva syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Richieri Costa-da Silva syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Richieri Costa-da Silva syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Richieri Costa-da Silva syndrome	Is a	Myotonia congenita	false	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Richieri Costa-da Silva syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Richieri Costa-da Silva syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Richieri Costa-da Silva syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Richieri Costa-da Silva syndrome	Is a	Myotonic disorder	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Richieri Costa-da Silva syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Richieri Costa-da Silva syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Richieri Costa-da Silva syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Richieri Costa-da Silva syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Richieri Costa-da Silva syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756872010	Richieri Costa-da Silva syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3756873017	Myotonia, intellectual disability, skeletal anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3756874011	Richieri Costa-da Silva syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module