73284007: Marshall-Smith syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome

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

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Marshall-Smith syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marshall-Smith syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Marshall-Smith syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Marshall-Smith syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Marshall-Smith syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Marshall-Smith syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Marshall-Smith syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Marshall-Smith syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marshall-Smith syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Marshall-Smith syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marshall-Smith syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Marshall-Smith syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Marshall-Smith syndrome	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	1
Marshall-Smith syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Marshall-Smith syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Marshall-Smith syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Marshall-Smith syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Marshall-Smith syndrome	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Marshall-Smith syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Marshall-Smith syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	2
Marshall-Smith syndrome	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	maladie du système musculosquelettique (trouble)	false	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Marshall-Smith syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	maladie du système musculosquelettique (trouble)	false	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Multisystem disorder M-N (navigational concept)	false	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Marshall-Smith syndrome	est un(e) (attribut)	Multiple malformation syndrome with early overgrowth (disorder)	true	Inferred relationship	Some
Marshall-Smith syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Marshall-Smith syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Marshall-Smith syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Marshall-Smith syndrome	localisation d'une constatation (attribut)	appareil locomoteur	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
121704017	Marshall-Smith syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3799840019	Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
462391000241115	syndrome de Marshall-Smith (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
813655015	Marshall-Smith syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
983371000172116	syndrome de maturation osseuse accélérée, dysmorphie faciale, retard staturo-pondéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996121000172114	syndrome de Marshall-Smith	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)