782914000: Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Brachydactyly, short stature, retinitis pigmentosa syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa 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\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3756672013 Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3756673015 Brachydactyly, short stature, retinitis pigmentosa syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Degeneration of retina	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
3756672013	Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3756673015	Brachydactyly, short stature, retinitis pigmentosa syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module