254082007: Chondrodysplasia punctata, X-linked recessive type (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\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\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chondrodysplasia punctata, X-linked recessive type
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked recessive type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\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\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\trouble du développement\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked recessive type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked recessive type

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

378235019 Chondrodysplasia punctata, X-linked recessive type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

644924011 Chondrodysplasia punctata, X-linked recessive type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata, X-linked recessive type	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Chondrodysplasia punctata, X-linked recessive type	survenue (attribut)	congénital	false	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	est un(e) (attribut)	Chondrodysplasia punctata	true	Inferred relationship	Some

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
378235019	Chondrodysplasia punctata, X-linked recessive type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644924011	Chondrodysplasia punctata, X-linked recessive type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core