1208482007: Distal arthrogryposis type 10 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Deformity\Deformity of limb\Deformity of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Deformity\Deformity of limb\Deformity of lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Deformity\Congenital deformity\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Deformity\Contracture of joint\Flexion contracture of joint\Distal arthrogryposis type 10
\Deformity\Contracture of joint\Contracture of joint of foot\Distal arthrogryposis type 10
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Finding of limb structure\Deformity of limb\Deformity of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Finding of limb structure\Deformity of limb\Deformity of lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Finding of limb structure\Finding of lower limb\Deformity of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Finding of limb structure\Finding of lower limb\Deformity of lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Foot joint - range of movement - finding\Decreased range of foot movement\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Foot joint - range of movement - finding\Decreased range of foot movement\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Decreased range of foot movement\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Flexion contracture of joint\Distal arthrogryposis type 10
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Finding of movement\Movement disorder\Contracture of joint\Flexion contracture of joint\Distal arthrogryposis type 10
\Finding of movement\Movement disorder\Contracture of joint\Contracture of joint of foot\Distal arthrogryposis type 10
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10

\Disease\Disorder of joint region\Contracture of joint\Flexion contracture of joint\Distal arthrogryposis type 10
\Disease\Disorder of joint region\Contracture of joint\Contracture of joint of foot\Distal arthrogryposis type 10
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Distal arthrogryposis type 10
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Contracture of joint of foot\Distal arthrogryposis type 10
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Movement disorder\Contracture of joint\Flexion contracture of joint\Distal arthrogryposis type 10
\Disease\Movement disorder\Contracture of joint\Contracture of joint of foot\Distal arthrogryposis type 10
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Distal arthrogryposis type 10
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb\Distal arthrogryposis type 10

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4964775014 Congenital plantar flexion contracture en Synonym Active Case insensitive SNOMED CT core

4964776010 DA10 - distal arthrogryposis type 10 en Synonym Active Case sensitive SNOMED CT core

4964777018 Distal arthrogryposis type 10 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4964778011 Distal arthrogryposis type 10 en Synonym Active Case insensitive SNOMED CT core

4964779015 A rare genetic distal arthrogryposis syndrome with characteristics of plantar flexion contractures typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal arthrogryposis type 10	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Distal arthrogryposis type 10	Is a	Contracture of joint of foot	true	Inferred relationship	Some
Distal arthrogryposis type 10	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Distal arthrogryposis type 10	Is a	Flexion contracture of joint	true	Inferred relationship	Some
Distal arthrogryposis type 10	Is a	Longitudinal deficiency of part of limb	true	Inferred relationship	Some
Distal arthrogryposis type 10	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Distal arthrogryposis type 10	Interprets	Foot joint - range of movement	true	Inferred relationship	Some	2
Distal arthrogryposis type 10	Has interpretation	Decreased	true	Inferred relationship	Some	2
Distal arthrogryposis type 10	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal arthrogryposis type 10	Finding site	Structure of foot joint region	true	Inferred relationship	Some	1
Distal arthrogryposis type 10	Associated morphology	Flexion contracture	true	Inferred relationship	Some	1
Distal arthrogryposis type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Distal arthrogryposis type 10	Is a	Congenital deformity of lower limb	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
4964775014	Congenital plantar flexion contracture	en	Synonym	Active	Case insensitive	SNOMED CT core
4964776010	DA10 - distal arthrogryposis type 10	en	Synonym	Active	Case sensitive	SNOMED CT core
4964777018	Distal arthrogryposis type 10 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964778011	Distal arthrogryposis type 10	en	Synonym	Active	Case insensitive	SNOMED CT core
4964779015	A rare genetic distal arthrogryposis syndrome with characteristics of plantar flexion contractures typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.	en	Definition	Active	Case sensitive	SNOMED CT core