721883006: Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia 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\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3326440010 Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3326441014 Radioulnar synostosis with developmental delay and hypotonia syndrome en Synonym Active Case insensitive SNOMED CT core

3326442019 Der Kaloustian McIntosh Silver syndrome en Synonym Active Case sensitive SNOMED CT core

3323160015 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). en Definition Active Case sensitive SNOMED CT core

3326446016 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Radioulnar synostosis with developmental delay and hypotonia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Radioulnar synostosis with developmental delay and hypotonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Radioulnar synostosis with developmental delay and hypotonia syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Radioulnar synostosis with developmental delay and hypotonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Radioulnar synostosis with developmental delay and hypotonia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Bone structure of radius and/or ulna	false	Inferred relationship	Some	1
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Radioulnar synostosis with developmental delay and hypotonia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Bone structure of ulna	true	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Radioulnar synostosis with developmental delay and hypotonia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Radioulnar synostosis with developmental delay and hypotonia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Radioulnar synostosis with developmental delay and hypotonia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Radioulnar synostosis with developmental delay and hypotonia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Radioulnar synostosis with developmental delay and hypotonia syndrome	Is a	Radioulnar synostosis	true	Inferred relationship	Some
Radioulnar synostosis with developmental delay and hypotonia syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Radioulnar synostosis with developmental delay and hypotonia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Radioulnar synostosis with developmental delay and hypotonia syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Bone structure of radius and/or ulna	false	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Radioulnar synostosis with developmental delay and hypotonia syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Radioulnar synostosis with developmental delay and hypotonia syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326440010	Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3326441014	Radioulnar synostosis with developmental delay and hypotonia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326442019	Der Kaloustian McIntosh Silver syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323160015	An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).	en	Definition	Active	Case sensitive	SNOMED CT core
3326446016	An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).	en	Definition	Active	Case sensitive	SNOMED CT core