702346005: Chromosome 11p11.2 deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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\Potocki-Shaffer syndrome
\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\Potocki-Shaffer syndrome
\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\Potocki-Shaffer syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Potocki-Shaffer syndrome

\Mass of body structure\Mass of musculoskeletal structure\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Potocki-Shaffer syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Potocki-Shaffer syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Potocki-Shaffer syndrome

\Musculoskeletal finding\Mass of musculoskeletal structure\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome

\Disease\Genetic disease\Genetic intellectual disability\Potocki-Shaffer syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Potocki-Shaffer syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Potocki-Shaffer syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Potocki-Shaffer syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Potocki-Shaffer syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\Potocki-Shaffer syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Potocki-Shaffer syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995037013 Proximal 11p deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995170018 Chromosome 11p11.2 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995658018 P11pDS - proximal 11p deletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995935019 Potocki-Shaffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995937010 Chromosome 11p11.2 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3788234014 Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5453975010 A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5453976011 A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Potocki-Shaffer syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Potocki-Shaffer syndrome	Is a	11p partial monosomy syndrome	true	Inferred relationship	Some
Potocki-Shaffer syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some	4
Potocki-Shaffer syndrome	Associated morphology	Nephroblastoma	false	Inferred relationship	Some	5
Potocki-Shaffer syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	5
Potocki-Shaffer syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Potocki-Shaffer syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Potocki-Shaffer syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	7
Potocki-Shaffer syndrome	Finding site	Iris structure	false	Inferred relationship	Some	7
Potocki-Shaffer syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	6
Potocki-Shaffer syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	6
Potocki-Shaffer syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Finding site	Iris structure	false	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Is a	Congenital exostosis	true	Inferred relationship	Some
Potocki-Shaffer syndrome	Associated morphology	External hyperostosis	true	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
Potocki-Shaffer syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
Potocki-Shaffer syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Potocki-Shaffer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Potocki-Shaffer syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Potocki-Shaffer syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Potocki-Shaffer syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Potocki-Shaffer syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Potocki-Shaffer syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Potocki-Shaffer syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Potocki-Shaffer syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	4
Potocki-Shaffer syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	4
Potocki-Shaffer syndrome	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Potocki-Shaffer syndrome	Is a	Neurodevelopmental delay (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995037013	Proximal 11p deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995170018	Chromosome 11p11.2 deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995658018	P11pDS - proximal 11p deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995935019	Potocki-Shaffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995937010	Chromosome 11p11.2 deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3788234014	Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5453975010	A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5453976011	A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core