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

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

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\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 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\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 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\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 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\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 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)

\Finding of head and neck region\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\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)

\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 (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\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 anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\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 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\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 anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\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 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\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 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of extremity (disorder)\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 (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\Disease\Congenital disease (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 (disorder)
\Disease\Congenital disease (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 (disorder)
\Disease\Congenital disease (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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
\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 (disorder)
\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 (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3724080018 Short ulna, dysmorphism, hypotonia, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4220961000052112 syndrom med kort ulna, dysmorfism, hypotoni och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Finding site	Bone structure of ulna	true	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Congenital hypoplasia of ulna	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Global developmental delay	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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 (core metadata concept)	SNOMED CT core
3724080018	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4220961000052112	syndrom med kort ulna, dysmorfism, hypotoni och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)