890237005: Autosomal recessive Robinow syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Deformity (finding)\Congenital deformity\Robinow syndrome\Autosomal recessive Robinow syndrome

\Finding of back (finding)\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
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Finding of back (finding)\Disorder of back\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
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Finding of back (finding)\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 recessive Robinow syndrome

\Finding of limb structure\Deformity of limb (finding)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Robinow syndrome\Autosomal recessive 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 recessive Robinow syndrome

\Finding of head and neck region\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

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Robinow syndrome\Autosomal recessive Robinow syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Robinow syndrome\Autosomal recessive 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 recessive Robinow syndrome

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

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

4835541000052118 autosomalt recessivt Robinows syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
4835541000052118	autosomalt recessivt Robinows syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)