76520005: Robinow syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Robinow syndrome
\Deformity (finding)\anomalie morphologique congénitale\Robinow syndrome

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Robinow syndrome
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Robinow syndrome
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Robinow syndrome
\constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Robinow syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Robinow syndrome

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Robinow syndrome

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Robinow syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Robinow syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome

\Musculoskeletal finding\Vertebral column finding\affection du rachis\Robinow syndrome
\Musculoskeletal finding\constatation à propos de l'os\Bone absent\Congenital absence of skeletal bone\Robinow syndrome
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\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\Congenital absence of skeletal bone\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Robinow syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Robinow syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Robinow syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\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\Congenital absence of skeletal bone\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Robinow syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Robinow syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Robinow syndrome
\Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Robinow syndrome
\Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Robinow syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Robinow syndrome
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome

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
Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Robinow syndrome	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	true	Inferred relationship	Some	1
Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Robinow syndrome	est un(e) (attribut)	résultat concernant une vertèbre	false	Inferred relationship	Some
Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	true	Inferred relationship	Some	3
Robinow syndrome	est un(e) (attribut)	affection du rachis	true	Inferred relationship	Some
Robinow syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Robinow syndrome	est un(e) (attribut)	Deformity of limb (finding)	true	Inferred relationship	Some
Robinow syndrome	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
Robinow syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	2
Robinow syndrome	est un(e) (attribut)	Congenital anomaly of limb	true	Inferred relationship	Some
Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Robinow syndrome	morphologie associée (attribut)	Aplasia	true	Inferred relationship	Some	3
Robinow syndrome	est un(e) (attribut)	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	anomalie morphologique congénitale	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Congenital absence of spine	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Bone absent	false	Inferred relationship	Some
Robinow syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	4
Robinow syndrome	est un(e) (attribut)	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Robinow syndrome	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	4
Robinow syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	5
Robinow syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Congenital absence of skeletal bone	true	Inferred relationship	Some
Robinow syndrome	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	6
Robinow syndrome	est un(e) (attribut)	affection d'une extrémité	false	Inferred relationship	Some
Robinow syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Robinow syndrome	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Disorder of face (disorder)	false	Inferred relationship	Some
Robinow syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Autosomal hereditary disorder	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Congenital anomaly of face	false	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Robinow syndrome	est un(e) (attribut)	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Some
Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Robinow syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Robinow syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Robinow syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	4
Robinow syndrome	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Robinow syndrome	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	false	Inferred relationship	Some
Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Robinow syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Robinow syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Robinow syndrome	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Robinow syndrome (disorder)	est un(e) (attribut)	True	Robinow syndrome	Inferred relationship	Some
Autosomal recessive Robinow syndrome	est un(e) (attribut)	True	Robinow syndrome	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
127073014	Robinow syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
127074015	Fetal face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3012306011	Foetal face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
466101000241113	syndrome de Robinow (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
817249015	Robinow syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
877481000172116	syndrome de Robinow	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
889781000172113	dysostose acrale avec anomalies faciales et génitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)