58561002: Diastrophic dysplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia (disorder)

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia (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\Mesomelic dysplasia\Diastrophic dysplasia (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (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\Diastrophic dysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Diastrophic dysplasia (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (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\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia (disorder)

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
Diastrophic dysplasia (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Diastrophic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Congenital malformation syndromes associated with short stature	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Dislocation	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	Joint structure of multiple body sites (body structure)	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Diastrophic dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Micromelia	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Congenital smallness	true	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	Entire limb	true	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Diastrophic dysplasia (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	4
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	True dwarfism	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	Atelosteogenesis	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	est un(e) (attribut)	insuffisance staturale	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Diastrophic dysplasia (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Diastrophic dysplasia (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Diastrophic dysplasia (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1

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
1231849012	DTD - Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231850012	Diastrophic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231851011	DD - Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231852016	Diastrophic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
797307017	Diastrophic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97316014	Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97317017	Diastrophic nanism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
97318010	Diastrophic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core