73284007: Marshall-Smith syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Marshall-Smith syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome

\Disorder of skeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Marshall-Smith syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marshall-Smith syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Marshall-Smith syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Marshall-Smith syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Marshall-Smith syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

121704017 Marshall-Smith syndrome en Synonym Active Case sensitive SNOMED CT core

3799840019 Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome en Synonym Active Case insensitive SNOMED CT core

813655015 Marshall-Smith syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marshall-Smith syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Marshall-Smith syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Marshall-Smith syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Marshall-Smith syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Marshall-Smith syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Marshall-Smith syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Marshall-Smith syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Marshall-Smith syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Marshall-Smith syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Marshall-Smith syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Marshall-Smith syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Musculoskeletal disorder	false	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Marshall-Smith syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Musculoskeletal disorder	false	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Multisystem disorder M-N	false	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Marshall-Smith syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Marshall-Smith syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Marshall-Smith syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Marshall-Smith syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Marshall-Smith syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
121704017	Marshall-Smith syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3799840019	Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
813655015	Marshall-Smith syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core