29352008: Thanatophoric dysplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\dysplasie thanatophore (trouble)

\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)

\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)
\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)
\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)
\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)
\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)

\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)
\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)
\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)
\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)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie thanatophore (trouble)
\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)
\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)
\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)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie thanatophore (trouble)
\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)
\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)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\dysplasie thanatophore (trouble)

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
dysplasie thanatophore (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
dysplasie thanatophore (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
dysplasie thanatophore (trouble)	est un(e) (attribut)	Defects of the tubular (and flat) bones and/or axial skeleton	true	Inferred relationship	Some
dysplasie thanatophore (trouble)	est un(e) (attribut)	True dwarfism	false	Inferred relationship	Some
dysplasie thanatophore (trouble)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
dysplasie thanatophore (trouble)	est un(e) (attribut)	insuffisance staturale	true	Inferred relationship	Some
dysplasie thanatophore (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
dysplasie thanatophore (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
dysplasie thanatophore (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
dysplasie thanatophore (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
dysplasie thanatophore (trouble)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
dysplasie thanatophore (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thanatophoric dysplasia, type 1 (disorder)	est un(e) (attribut)	True	dysplasie thanatophore (trouble)	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	est un(e) (attribut)	True	dysplasie thanatophore (trouble)	Inferred relationship	Some

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
1016451000172118	nanisme thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1226349010	Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226350010	TD - Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3036339019	Thanatophoric short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
414091000241110	dysplasie thanatophore (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
49116010	Thanatophoric dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49117018	Thanatophoric dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49118011	Thanatophoric dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
911901000172114	dysplasie thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)