717192003: Familial digital arthropathy and brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3308650019 Familial digital arthropathy and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

12109611000172116 syndrome d'arthropathie digitale et brachydactylie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4118271000172114 syndroom van familiaire digitale artropathie en brachydactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14583841000172116 syndroom van familiale digitale artropathie en brachydactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

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
3308649019	Familial digital arthropathy and brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308650019	Familial digital arthropathy and brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
12109611000172116	syndrome d'arthropathie digitale et brachydactylie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4118271000172114	syndroom van familiaire digitale artropathie en brachydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14583841000172116	syndroom van familiale digitale artropathie en brachydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)