389165004: brachyolmie type Maroteaux (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachyolmia - Maroteaux type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	Musculoskeletal structure of spine	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	est un(e) (attribut)	Brachyolmia	true	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	Musculoskeletal structure of spine	false	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3

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
1463344013	Brachyolmia - Maroteaux type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483217013	Brachyolmia - Maroteaux type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
624971000241116	brachyolmie type Maroteaux (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915731000172116	brachyolmie type Maroteaux	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996141000172117	brachyolmie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)