722298001: Ballard syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ballard syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ballard syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ballard syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ballard syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ballard syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Ballard 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\Ballard syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ballard syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ballard syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ballard syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ballard syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ballard syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Ballard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Ballard syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3331489010 Ballard syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3331490018 Ballard syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3331491019 Brachydactyly types B and E combined en Synonym Active Only initial character case insensitive SNOMED CT core module

3331492014 Pitt Williams brachydactyly en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ballard syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Ballard syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Ballard syndrome	Finding site	Bone structure of extremity	false	Inferred relationship	Existential restriction modifier	3
Ballard syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ballard syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ballard syndrome	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	1
Ballard syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Ballard syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Ballard syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Ballard syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3331489010	Ballard syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3331490018	Ballard syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3331491019	Brachydactyly types B and E combined	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3331492014	Pitt Williams brachydactyly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module