770406002: Brachydactyly type B2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Brachydactyly type B2
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type B2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Brachydactyly type B2
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Brachydactyly type B2
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type B2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type B2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type B2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type B2
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly type B2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Symphalangism\Brachydactyly type B2
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type B2
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Brachydactyly type B2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type B2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Symphalangism\Brachydactyly type B2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type B2

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3700718013 Brachydactyly type B2 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3700719017 Brachydactyly type B2 en Synonym Active Initial character case insensitive SNOMED CT core

3700720011 A rare genetic congenital limb malformation disorder with characteristics of hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. There is evidence this disease is caused by mutations in the bone morphogenetic protein antagonist Noggin (NOG). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type B2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Brachydactyly type B2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type B2	Associated morphology	Ankylosis	true	Inferred relationship	Some	2
Brachydactyly type B2	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type B2	Is a	Symphalangism	true	Inferred relationship	Some
Brachydactyly type B2	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachydactyly type B2	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type B2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type B2	Finding site	Digit structure	true	Inferred relationship	Some	1
Brachydactyly type B2	Finding site	Interphalangeal joint structure	true	Inferred relationship	Some	2
Brachydactyly type B2	Is a	Brachydactyly	true	Inferred relationship	Some
Brachydactyly type B2	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type B2	Occurrence	Congenital	true	Inferred relationship	Some	1

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
3700718013	Brachydactyly type B2 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3700719017	Brachydactyly type B2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700720011	A rare genetic congenital limb malformation disorder with characteristics of hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. There is evidence this disease is caused by mutations in the bone morphogenetic protein antagonist Noggin (NOG).	en	Definition	Active	Case sensitive	SNOMED CT core