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\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\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\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\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\...

\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\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Eye / vision finding\Globe finding\Disorder of eye\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\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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\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\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 anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3756673015 Brachydactyly, short stature, retinitis pigmentosa syndrome en Synonym Active Case insensitive SNOMED CT core

3756674014 A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. en Definition Active Case sensitive SNOMED CT core

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	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Degeneration of retina	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Brachydactyly, short stature, retinitis pigmentosa syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756672013	Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756673015	Brachydactyly, short stature, retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3756674014	A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.	en	Definition	Active	Case sensitive	SNOMED CT core