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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\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 extremity\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 extremity\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 extremity\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 extremity\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 extremity\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\Finding of intellectual ability\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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 extremity\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 extremity\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 extremity\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3724079016 Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3724080018 Short ulna, dysmorphism, hypotonia, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Finding site	Bone structure of ulna	true	Inferred relationship	Existential restriction modifier	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Congenital hypoplasia of ulna	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3724079016	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3724080018	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module