773556006: Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability 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 hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability 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 hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability 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\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724079016	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724080018	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724081019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start