1216940001: Joint contractures, developmental delay, Pierre Robin syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Joint contractures, developmental delay, Pierre Robin syndrome
\Deformity\Joint deformity\Joint contractures, developmental delay, Pierre Robin syndrome
\Deformity\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Finding of movement\Movement disorder\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Joint contractures, developmental delay, Pierre Robin syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of joint region\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Genetic disease\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Movement disorder\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome
\Disease\Developmental disorder\Developmental delay\Joint contractures, developmental delay, Pierre Robin syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5033744019 5q23 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5033746017 Joint contractures, developmental delay, Pierre Robin syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

5033748016 Joint contractures, developmental delay, Pierre Robin syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Congenital deformity	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Robin sequence	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Deletion of part of long arm of chromosome 5	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Contracture of joint	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	5
Joint contractures, developmental delay, Pierre Robin syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	5
Joint contractures, developmental delay, Pierre Robin syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Joint contractures, developmental delay, Pierre Robin syndrome	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier	1
Joint contractures, developmental delay, Pierre Robin syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Joint contractures, developmental delay, Pierre Robin syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Joint contractures, developmental delay, Pierre Robin syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
Joint contractures, developmental delay, Pierre Robin syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Joint contractures, developmental delay, Pierre Robin syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Joint contractures, developmental delay, Pierre Robin syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Joint contractures, developmental delay, Pierre Robin syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Joint contractures, developmental delay, Pierre Robin syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Joint contractures, developmental delay, Pierre Robin syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Joint contractures, developmental delay, Pierre Robin syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	4
Joint contractures, developmental delay, Pierre Robin syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Joint deformity	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Lesion of joint	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Is a	Congenital anomaly of joint	true	Inferred relationship	Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome	Finding site	Joint structure	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5033744019	5q23 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5033746017	Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5033748016	Joint contractures, developmental delay, Pierre Robin syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module