717192003: Familial digital arthropathy and brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Familial digital arthropathy and brachydactyly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Familial digital arthropathy and brachydactyly syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial digital arthropathy and brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome

\Disease\Disorder of joint region\Arthropathy\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial digital arthropathy and brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial digital arthropathy and brachydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Familial digital arthropathy and brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Familial digital arthropathy and brachydactyly syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308649019 Familial digital arthropathy and brachydactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3308650019 Familial digital arthropathy and brachydactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3308651015 Syndrome with the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial digital arthropathy and brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial digital arthropathy and brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Familial digital arthropathy and brachydactyly syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Familial digital arthropathy and brachydactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Familial digital arthropathy and brachydactyly syndrome	Finding site	Structure of joint of digit of hand	true	Inferred relationship	Some	2
Familial digital arthropathy and brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial digital arthropathy and brachydactyly syndrome	Is a	Finding of musculoskeletal structure of digit of hand	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Arthropathy of joint of hand	true	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Finding site	Structure of joint of digit of hand	false	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Familial digital arthropathy and brachydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Familial digital arthropathy and brachydactyly syndrome	Finding site	Digit structure	false	Inferred relationship	Some	2
Familial digital arthropathy and brachydactyly syndrome	Is a	Congenital anomaly of digit	false	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	Longitudinal deficiency of part of limb	false	Inferred relationship	Some

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
3308649019	Familial digital arthropathy and brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308650019	Familial digital arthropathy and brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3308651015	Syndrome with the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core