Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006

SNOMED CT code

SNOMED code

721883006

name

Radioulnar synostosis with developmental delay and hypotonia syndrome

status

active

date introduced

2017-01-31

fully specified name(s)

Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)

synonyms

Radioulnar synostosis with developmental delay and hypotonia syndrome
Der Kaloustian McIntosh Silver syndrome

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Congenital abnormal fusion 37764001

Finding site

Bone structure of radius 62413002

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

attributes - group3

Finding site

Bone structure of ulna 23416004

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Congenital abnormal fusion 37764001

attributes - group4

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group5

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Congenital radioulnar synostosis 1268409009
Multiple malformation syndrome with facial-limb defects as major feature 23359005

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Finding of upper limb 116307009
Finding of bone of upper limb 298756009
Failure of differentiation of bones of forearm 253917003
Congenital radioulnar synostosis 1268409009
Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Congenital anomaly of limb 60475009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006

ancestors

sorted most to least specific

Intellectual disability 110359009
Congenital radioulnar synostosis 1268409009
Multiple malformation syndrome with facial-limb defects as major feature 23359005
Intellectual ability - finding 365814006
Failure of differentiation of bones of forearm 253917003
Multiple malformation syndrome with limb defect as major feature 41443008
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Radioulnar synostosis 33313004
Congenital abnormal fusion of radius 92874001
Congenital abnormal fusion of ulna 92882001
Multiple malformation syndrome with facial defects as major feature 65094009
Intelligence finding 106137004
Multiple system malformation syndrome 82354003
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital anomaly of radius 123559005
Congenital anomaly of ulna 123560000
Congenital anomaly of face 398302004
Functional finding 118228005
Disorder of forearm 128132009
Congenital malformation syndrome 400038003
Finding of bone of upper limb 298756009
Congenital anomaly of upper limb 66510004
Congenital anomaly of skeletal bone 8447006
Disorder of face 118930001
Congenital anomaly of head 87290003
Disorder of upper limb 118947000
Disorder of bone development 371521007
Congenital anomaly of limb 60475009
Disorder of head 118934005
Congenital anomaly of musculoskeletal system 73573004
Finding of face 301310005
Finding of upper limb 116307009
Congenital malformation 276654001
Disorder of limb 128605003
Disorder of bone 76069003
Finding of head region 298364001
Finding of limb structure 302293008
Developmental disorder 5294002
Head finding 406122000
Congenital disease 66091009
Bone finding 118953000
Disorder of skeletal system 88230002
Finding of head and neck region 118254002
Disorder of musculoskeletal system 928000
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006

SNOMED CT code