389158007: dysplasie thanatophore type 2 (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (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\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (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\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\dysplasie thanatophore (trouble)\Thanatophoric dysplasia, type 2 (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
Thanatophoric dysplasia, type 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	est un(e) (attribut)	dysplasie thanatophore (trouble)	true	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	morphologie associée (attribut)	Congenital dysplasia	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
1463337016	Thanatophoric dysplasia, type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1483210010	Thanatophoric dysplasia, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
624951000241114	dysplasie thanatophore type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
870891000172115	dysplasie thanatophore type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
969161000172110	nanisme thanatophore type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)