254101001: Osteodysplastic primordial dwarfism (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Primordial dwarfism\Osteodysplastic primordial dwarfism

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Primordial dwarfism\Osteodysplastic primordial dwarfism

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\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\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\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\Osteodysplastic primordial dwarfism
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Primordial dwarfism\Osteodysplastic primordial dwarfism

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

Descriptions:

Id Description Lang Type Status Case? Module

378260019 Osteodysplastic primordial dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644946015 Osteodysplastic primordial dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	est un(e) (attribut)	Primordial dwarfism	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microcephalic osteodysplastic primordial dwarfism type II	est un(e) (attribut)	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	est un(e) (attribut)	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	est un(e) (attribut)	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	est un(e) (attribut)	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	est un(e) (attribut)	False	Osteodysplastic primordial dwarfism	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
378260019	Osteodysplastic primordial dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644946015	Osteodysplastic primordial dwarfism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core