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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Deformity (finding)\Joint deformity\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Genetic disease\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Developmental disorder (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 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Joint contractures, developmental delay, Pierre Robin syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5033744019	5q23 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5033746017	Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033748016	Joint contractures, developmental delay, Pierre Robin syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5399898015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399899011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5033744019	5q23 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5033746017	Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033748016	Joint contractures, developmental delay, Pierre Robin syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033747014	A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399898015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399899011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422471001000115	Kontrakturen-Entwicklungsverzögerung-Pierre Robin-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422471001000115	Kontrakturen-Entwicklungsverzögerung-Pierre Robin-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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