782941005: Richieri Costa-da Silva syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\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

\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 (finding)\Impaired cognition (finding)\Intellectual disability\Richieri Costa-da Silva syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Richieri Costa-da Silva syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Richieri Costa-da Silva syndrome

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\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\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)\Disorder of bone development (disorder)\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\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 muscle\Disorder of skeletal muscle\Myotonic disorder\Richieri Costa-da Silva syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Richieri Costa-da Silva syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Richieri Costa-da Silva syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\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 (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756872010 Richieri Costa-da Silva syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756873017 Myotonia, intellectual disability, skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

3756875012 A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756876013 A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7650681000172113 syndrome de myotonie, déficience intellectuelle et anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7650691000172111 syndrome de Richieri-Costa-da Silva fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5524191000172117 syndroom van myotonia, verstandelijke handicap en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5524201000172119 syndroom van myotonie, verstandelijke beperking en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5524211000172116 Richieri Costa-da Silva-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5524221000172114 syndroom van myotonie, mentale retardatie en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756872010	Richieri Costa-da Silva syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756873017	Myotonia, intellectual disability, skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756874011	Richieri Costa-da Silva syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756875012	A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756876013	A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7650681000172113	syndrome de myotonie, déficience intellectuelle et anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7650691000172111	syndrome de Richieri-Costa-da Silva	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5524191000172117	syndroom van myotonia, verstandelijke handicap en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5524201000172119	syndroom van myotonie, verstandelijke beperking en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5524211000172116	Richieri Costa-da Silva-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5524221000172114	syndroom van myotonie, mentale retardatie en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)