733095006: Skeletal dysplasia brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mononen Karnes Senac syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mononen Karnes Senac syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mononen Karnes Senac syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Mononen Karnes Senac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Mononen Karnes Senac syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498741012 Mononen Karnes Senac syndrome en Synonym Active Case sensitive SNOMED CT core

3498742017 Skeletal dysplasia brachydactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3498743010 Skeletal dysplasia brachydactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3499974010 Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mononen Karnes Senac syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Mononen Karnes Senac syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mononen Karnes Senac syndrome	Finding site	Entire digit	true	Inferred relationship	Some	1
Mononen Karnes Senac syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Mononen Karnes Senac syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mononen Karnes Senac syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Finding site	Entire digit	false	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Mononen Karnes Senac syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Mononen Karnes Senac syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Mononen Karnes Senac syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Mononen Karnes Senac syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2

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
3498741012	Mononen Karnes Senac syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498742017	Skeletal dysplasia brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498743010	Skeletal dysplasia brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499974010	Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	en	Definition	Active	Case sensitive	SNOMED CT core