716231009: syndrome spondylo-camptodactylie (trouble)

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\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (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\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondylocamptodactyly syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylocamptodactyly syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (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\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Spondylocamptodactyly syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Spondylocamptodactyly syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Spondylocamptodactyly syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Spondylocamptodactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305155014 Spondylocamptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305156010 Spondylocamptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

749441000241113 syndrome spondylo-camptodactylie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

923701000172119 syndrome spondylo-camptodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3305157018 Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylocamptodactyly syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	Spondylodysplastic group	true	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondylocamptodactyly syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Spondylocamptodactyly syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spondylocamptodactyly syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305155014	Spondylocamptodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305156010	Spondylocamptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749441000241113	syndrome spondylo-camptodactylie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
923701000172119	syndrome spondylo-camptodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3305157018	Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core