890237005: Autosomal recessive Robinow syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Deformity (finding)\anomalie morphologique congénitale\Robinow syndrome\Autosomal recessive 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\Autosomal recessive Robinow syndrome
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Robinow syndrome\Autosomal recessive Robinow syndrome
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Robinow syndrome\Autosomal recessive 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\Autosomal recessive Robinow syndrome
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Robinow syndrome\Autosomal recessive 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\Autosomal recessive Robinow syndrome

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

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

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4011671019 Autosomal recessive Robinow syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4011672014 Autosomal recessive Robinow syndrome (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
Autosomal recessive Robinow syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive Robinow syndrome	est un(e) (attribut)	Robinow syndrome	true	Inferred relationship	Some
Autosomal recessive Robinow syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	1
Autosomal recessive Robinow syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Autosomal recessive Robinow syndrome	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	2
Autosomal recessive Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Autosomal recessive Robinow syndrome	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	true	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	true	Inferred relationship	Some	4
Autosomal recessive Robinow syndrome	morphologie associée (attribut)	Aplasia	true	Inferred relationship	Some	4
Autosomal recessive Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Autosomal recessive Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Autosomal recessive Robinow syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Autosomal recessive Robinow syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	5
Autosomal recessive Robinow syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	5
Autosomal recessive Robinow syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Autosomal recessive Robinow syndrome	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	6

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
4011671019	Autosomal recessive Robinow syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4011672014	Autosomal recessive Robinow syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core