890233009: Autosomal dominant Robinow syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Robinow syndrome\Autosomal dominant Robinow syndrome
\Deformity\Congenital deformity\Robinow syndrome\Autosomal dominant Robinow syndrome

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome

\Finding of limb structure\Deformity of limb\Robinow syndrome\Autosomal dominant Robinow syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Robinow syndrome\Autosomal dominant Robinow syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital absence of spine\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Robinow syndrome\Autosomal dominant Robinow syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Robinow syndrome\Autosomal dominant Robinow syndrome

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4011661016 Autosomal dominant Robinow syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

4011663018 Autosomal dominant Robinow syndrome en Synonym Active Initial character case insensitive SNOMED CT core

4011662011 The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. en Definition Active Case sensitive SNOMED CT core

4011664012 The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant Robinow syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant Robinow syndrome	Is a	Robinow syndrome	true	Inferred relationship	Some
Autosomal dominant Robinow syndrome	Clinical course	Progressive	true	Inferred relationship	Some	1
Autosomal dominant Robinow syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Autosomal dominant Robinow syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Autosomal dominant Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant Robinow syndrome	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Some	3
Autosomal dominant Robinow syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	3
Autosomal dominant Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal dominant Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal dominant Robinow syndrome	Finding site	Bone structure of spine	true	Inferred relationship	Some	4
Autosomal dominant Robinow syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	4
Autosomal dominant Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Autosomal dominant Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Autosomal dominant Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Autosomal dominant Robinow syndrome	Finding site	Face structure	true	Inferred relationship	Some	5
Autosomal dominant Robinow syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Autosomal dominant Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Autosomal dominant Robinow syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4011661016	Autosomal dominant Robinow syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4011663018	Autosomal dominant Robinow syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4011662011	The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	en	Definition	Active	Case sensitive	SNOMED CT core
4011664012	The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	en	Definition	Active	Case sensitive	SNOMED CT core