76520005: Robinow syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Robinow syndrome
\Deformity\Congenital deformity\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
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Robinow syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\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
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\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

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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

127073014 Robinow syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
127074015 Fetal face syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
817249015 Robinow syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3012306011 Foetal face syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Robinow syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Congenital anomaly of face	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Disorder of extremity	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Disorder of face	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Robinow syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Finding site	Musculoskeletal structure of limb	true	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Is a	Finding of vertebra	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Finding site	Bone structure of spine	true	Inferred relationship	Existential restriction modifier	3
Robinow syndrome	Is a	Disorder of vertebral column	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Is a	Deformity of limb	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Robinow syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Robinow syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Robinow syndrome	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier	3
Robinow syndrome	Is a	Congenital anomaly of face	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Congenital deformity	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Congenital absence of spine	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Bone absent	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Existential restriction modifier
Robinow syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	4
Robinow syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5
Robinow syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Existential restriction modifier
Robinow syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Robinow syndrome	Is a	True	Robinow syndrome	Inferred relationship	Existential restriction modifier
Autosomal recessive Robinow syndrome	Is a	True	Robinow syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
127073014	Robinow syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
127074015	Fetal face syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
817249015	Robinow syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3012306011	Foetal face syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module