1197589000: Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Injury of left lower limb\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Congenital anomaly of left lower limb\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Injury of right lower limb\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Congenital anomaly of right lower limb\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Injury of lower limb\Injury of left lower limb\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Injury of lower limb\Injury of right lower limb\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Injury of lower limb\Injury of hip region\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of hip\Injury of hip region\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Injury of left lower limb\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Congenital anomaly of left lower limb\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Injury of right lower limb\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Congenital anomaly of right lower limb\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Dislocation of joint of lower limb\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Injury of lower limb\Injury of left lower limb\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Injury of lower limb\Injury of right lower limb\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Injury of lower limb\Injury of hip region\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of hip\Injury of hip region\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of right lower limb\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of left lower limb\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Hip joint finding\Disorder of hip joint\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Hip joint finding\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Hip joint finding\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Hip pathological dislocation\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of right hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Disorder of hip\Disorder of hip joint\Dislocation of hip joint\Congenital dislocation of hip\Congenital dislocation of left hip\Bilateral congenital dislocation of hip\Steel syndrome
\Finding of limb structure\Finding of lower limb\Finding of hip region\Disorder of hip\Injury of hip region\Hip pathological dislocation\Steel syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Steel syndrome

\Finding of head and neck region\Injury of head and/or neck\Injury of head\Injury of face\Steel syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Steel syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Injury of face\Steel syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Steel syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Injury of face\Steel syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Steel syndrome
\Finding of head and neck region\Head finding\Disorder of head\Injury of head\Injury of face\Steel syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Steel syndrome

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4697272011 Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome en Synonym Active Case insensitive SNOMED CT core

4697273018 Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4697274012 Steel syndrome en Synonym Active Case sensitive SNOMED CT core

4697275013 A rare genetic bone disease with characteristics of short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Steel syndrome	Is a	Bilateral congenital dislocation of hip	true	Inferred relationship	Some
Steel syndrome	Is a	Injury of right lower limb	true	Inferred relationship	Some
Steel syndrome	Is a	Injury of left lower limb	true	Inferred relationship	Some
Steel syndrome	Is a	Injury of face	true	Inferred relationship	Some
Steel syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Steel syndrome	Is a	Hip pathological dislocation	true	Inferred relationship	Some
Steel syndrome	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Some
Steel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Steel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Steel syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Steel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Steel syndrome	Clinical course	Progressive	true	Inferred relationship	Some	6
Steel syndrome	Due to	Spontaneous event	true	Inferred relationship	Some	7
Steel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Steel syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Steel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Steel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Steel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Steel syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Steel syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Steel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Steel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Steel syndrome	Finding site	Left hip joint structure	true	Inferred relationship	Some	3
Steel syndrome	Associated morphology	Dislocation	true	Inferred relationship	Some	3
Steel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Steel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Steel syndrome	Finding site	Right hip joint structure	true	Inferred relationship	Some	4
Steel syndrome	Associated morphology	Dislocation	true	Inferred relationship	Some	4
Steel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Steel syndrome	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	5
Steel syndrome	Associated morphology	Dislocation	true	Inferred relationship	Some	5
Steel syndrome	Interprets	Body height measure	true	Inferred relationship	Some	8
Steel syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	8

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
4697272011	Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4697273018	Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697274012	Steel syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4697275013	A rare genetic bone disease with characteristics of short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32.	en	Definition	Active	Case sensitive	SNOMED CT core