773556006: syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (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 limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (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 limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Disorder of limb (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 limb (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 limb (disorder)\Disorder of forearm (disorder)\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (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 limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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 forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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 limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (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 limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of forearm (disorder)\Congenital hypoplasia of ulna\Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (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 limb (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\Developmental disorder\Neurodevelopmental 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 forearm (disorder)\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
6740171000146116	syndroom van korte ulna, dysmorfie, hypotonie en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495231000146115	syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7574591000146116	syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7574601000146114	syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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