733117001: Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability 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\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Joint finding\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome

\Disease\Disorder of joint region\Arthropathy\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Ankylosis of upper limb joint\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Arthropathy of joint of hand\Ankylosis of joint of hand\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498793014 Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498794015 Thumb stiffness, brachydactyly, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3498795019 Piussan Lenaerts Mathieu syndrome en Synonym Active Case sensitive SNOMED CT core

3499985012 Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thumb stiffness, brachydactyly, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thumb stiffness, brachydactyly, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Thumb stiffness, brachydactyly, intellectual disability syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Thumb stiffness, brachydactyly, intellectual disability syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Thumb stiffness, brachydactyly, intellectual disability syndrome	Associated morphology	Ankylosis	true	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Congenital anomaly of thumb	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Thumb stiffness, brachydactyly, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Syndactyly of thumb	false	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Lesion of joint	false	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Finding of joint of thumb	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Arthropathy of joint of hand	false	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome	Associated morphology	Congenital ankylosis	false	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome	Finding site	Thumb joint structure	true	Inferred relationship	Some	2
Thumb stiffness, brachydactyly, intellectual disability syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome	Finding site	Digit structure	false	Inferred relationship	Some	3
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Ankylosis of joint of hand	true	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	Intellectual disability	true	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
3498793014	Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498794015	Thumb stiffness, brachydactyly, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498795019	Piussan Lenaerts Mathieu syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499985012	Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	en	Definition	Active	Case sensitive	SNOMED CT core